818 results match your criteria Imaging in Achondroplasia


Neonatal lethal hypophosphatasia: A case report and review of literature.

Medicine (Baltimore) 2018 Nov;97(48):e13269

Neonatal Service, Metabolic Unit, Department of Pediatrics, Santiago de Compostela University Hospital, IDIS (Health Research Institute of Santiago de Compostela), Ciberer, Spain.

Rationale: Hypophosphatasia (HPP) is a very rare metabolic bone disease caused by loss-of-function mutations in the ALPL gene encoding the tissue nonspecific alkaline phosphatase. The severe neonatal form is considered lethal but insights into manifestations of the disease can help to increase our knowledge of the natural history for an early initiation of treatment and improvement of survival.

Patient Concerns: We report the case of a newborn in which his fetal imaging showed findings of skeletal dysplasia disorder, considering initially achondroplasia as a potential diagnosis. Read More

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http://dx.doi.org/10.1097/MD.0000000000013269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283130PMC
November 2018
1 Read

Polysomnography as an indicator for cervicomedullary decompression to treat foramen magnum stenosis in achondroplasia.

Childs Nerv Syst 2018 Nov 29;34(11):2275-2281. Epub 2018 Jun 29.

Department of Neurosurgery, Brain Research Institute, University of Niigata, 1-757, Asahimachi-dori, Chuo-ku,, Niigata City, Niigata, 951-8585, Japan.

Objective: Management of cervicomedullary compression due to foramen magnum stenosis in achondroplasia remains controversial, especially for patients with no symptoms or mild symptoms. We examined the effectiveness of polysomnography (PSG) as an indicator for cervicomedullary decompression treatment.

Methods: We retrospectively reviewed nine achondroplasia cases (mean age 1 year and 9 months) treated from 2008 to 2015. Read More

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http://link.springer.com/10.1007/s00381-018-3880-0
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http://dx.doi.org/10.1007/s00381-018-3880-0DOI Listing
November 2018
7 Reads

Sleep-Disordered Breathing in Children with Rare Skeletal Disorders: A Survey of Clinical Records.

Med Princ Pract 2018 21;27(5):451-458. Epub 2018 Jun 21.

Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy.

Objective: Craniofacial disharmony in skeletal diseases is strongly associated with sleep-disordered breathing. This study was aimed at studying the sleep respiratory patterns in young children with rare skeletal disorders.

Design: This retrospective study included children with achondroplasia (ACH), osteogenesis imperfecta (OI) and Ellis van Creveld Syndrome. Read More

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https://www.karger.com/Article/FullText/491391
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http://dx.doi.org/10.1159/000491391DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244108PMC
June 2018
9 Reads

Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children.

Otol Neurotol 2018 Jul;39(6):732-738

Centre of Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem.

Objectives: The purpose of this study is to report the results of a comprehensive etiological work-up for congenitally deaf children including targeted next generation sequencing.

Study Design: Retrospective case review.

Setting: Tertiary referral center. Read More

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http://dx.doi.org/10.1097/MAO.0000000000001847DOI Listing
July 2018
10 Reads

Safety of Dynamic Magnetic Resonance Imaging of the Cervical Spine in Children Performed without Neurosurgical Supervision.

World Neurosurg 2018 Aug 5;116:e1188-e1193. Epub 2018 Jun 5.

Division of Pediatric Neurosurgery, Department of Neurosurgery, Primary Children's Medical Center, University of Utah, Salt Lake City, Utah, USA.

Objective: The need for neurosurgical supervision as well as the general safety and utility of dynamic magnetic resonance imaging (MRI) of the cervical spine in children remains controversial. We present the largest descriptive cohort study of cervical flexion-extension MRI scans in pediatric patients to help elucidate the safety and utility of this technique.

Methods: We retrospectively reviewed all cervical spine MRI scans performed at Lucile Packard Children's Hospital at Stanford from 2009 to 2015. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S18788750183116
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http://dx.doi.org/10.1016/j.wneu.2018.05.210DOI Listing
August 2018
37 Reads

Changes in the range of motion of the lower limb joints during extensive tibial lengthening in achondroplasia.

J Pediatr Orthop B 2018 Nov;27(6):535-540

Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan.

Increase in the magnitude of lengthening during the limb lengthening procedure involves a high risk of decreased range of motion (ROM) in adjacent joints. Even though patients with achondroplasia can tolerate a relatively larger amount of lengthening owing to its inherent soft-tissue laxity, they often exhibit significant joint contractures during extensive lengthening. In the present study, we evaluated temporal changes in the ROM of the hip, knee, and ankle joints throughout the treatment period in 12 limbs of six patients with achondroplasia who had undergone extensive tibial lengthening. Read More

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http://Insights.ovid.com/crossref?an=01202412-201811000-0001
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http://dx.doi.org/10.1097/BPB.0000000000000526DOI Listing
November 2018
23 Reads

Cervical spinal cord compression in infants with achondroplasia: should neuroimaging be routine?

Genet Med 2018 Jun 5. Epub 2018 Jun 5.

Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Professor of Pediatrics, Feinberg School of Medicine, Northwestern University, Evanston, Illinois, USA.

Purpose: To examine results of magnetic resonance imaging (MRI), polysomnograms (PSG), and patient outcomes in patients with achondroplasia in light of recent screening recommendations for infants with achondroplasia.

Methods: We reviewed medical records of 49 patients with achondroplasia followed at our institution between September 1997 and January 2017, including physical exams, MRIs, PSGs (when available), and surgical histories. Appropriate PSG data were available for 39 of these patients. Read More

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http://www.nature.com/articles/s41436-018-0070-0
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http://dx.doi.org/10.1038/s41436-018-0070-0DOI Listing
June 2018
23 Reads

New subtype of familial achondrogenesis type IA (Houston-Harris).

Cir Cir 2018 ;86(1):89-98

Medicina Molecular, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social. Guadalajara, Jal. México.

Background: Achondrogenesis is a skeletal dysplasia characterized primarily by short stature, severe micromelia, short and narrow chest, prematurity, polyhydramnios, fetal hydrops, and in utero or neonatal death. Based on the radiological and histopathological findings, there are three types of achondrogenesis: type 1A (Houston-Harris), type 1B (Fraccaro) and type 2 (Langer-Saldino).

Clinical Case: A premature female product was studied whose clinical, radiological and histopathological characteristics were compatible with achondrogenesis Type 1A. Read More

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http://dx.doi.org/10.24875/CIRU.M18000008DOI Listing
November 2018
6 Reads

Prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II and a review of prenatal diagnosis of brain anomalies associated with thanatophoric dysplasia.

Taiwan J Obstet Gynecol 2018 Feb;57(1):119-122

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

Objective: We present prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II (TD2) and a review of prenatal diagnosis of brain anomalies associated with TD.

Case Report: A 33-year-old woman was referred for genetic counseling at 25 weeks of gestation because of fetal ultrasound abnormalities. Prenatal ultrasound at 14 weeks of gestation revealed an increased nuchal translucency (NT) and hydrocephalus. Read More

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http://dx.doi.org/10.1016/j.tjog.2017.12.020DOI Listing
February 2018
4 Reads

The Efficacy of Brace Treatment for Thoracolumbar Kyphosis in Patients With Achondroplasia.

Spine (Phila Pa 1976) 2018 08;43(16):1133-1138

Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, China.

Study Design: A retrospective study.

Objectives: The aim of this study was to evaluate the outcome of brace treatment in the correction of thoracolumbar kyphosis (TLK) for patients with achondroplasia and to determine the factors associated with bracing efficacy.

Summary Of Background Data: Brace treatment has been used to correct TLK in patients with achondroplasia. Read More

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http://dx.doi.org/10.1097/BRS.0000000000002586DOI Listing
August 2018
16 Reads

Optimal non-invasive diagnosis of fetal achondroplasia combining ultrasonography with circulating cell-free fetal DNA analysis.

Ultrasound Obstet Gynecol 2019 Jan 28;53(1):87-94. Epub 2018 Nov 28.

Service de Gynécologie-Obstétrique, Hôpital Antoine Béclère, AP-HP, Clamart, France.

Objectives: To assess the performance of non-invasive prenatal testing (NIPT) for achondroplasia using high-resolution melting (HRM) analysis, and to propose an optimal diagnostic strategy combining ultrasound examination and cell-free fetal DNA (cffDNA) analysis.

Methods: In this prospective multicenter study, cffDNA was extracted from blood of pregnant women at risk for fetal achondroplasia (owing to paternal achondroplasia, previous affected child or suspected rhizomelic shortening) and of pregnant low-risk controls. The presence of either one of the two main fibroblast growth factor receptor 3 gene (FGFR3) mutations was determined using HRM combined with confirmation by SNaPshot minisequencing. Read More

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http://doi.wiley.com/10.1002/uog.19018
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http://dx.doi.org/10.1002/uog.19018DOI Listing
January 2019
22 Reads

Skeletal Characterization of the Fgfr3 Mouse Model of Achondroplasia Using Micro-CT and MRI Volumetric Imaging.

Sci Rep 2018 01 11;8(1):469. Epub 2018 Jan 11.

Rare Diseases, Sanofi, 49 New York Avenue, Framingham, MA, 01701, USA.

Achondroplasia, the most common form of dwarfism, affects more than a quarter million people worldwide and remains an unmet medical need. Achondroplasia is caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene which results in over-activation of the receptor, interfering with normal skeletal development leading to disproportional short stature. Multiple mouse models have been generated to study achondroplasia. Read More

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http://www.nature.com/articles/s41598-017-18801-0
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http://dx.doi.org/10.1038/s41598-017-18801-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5765052PMC
January 2018
21 Reads

Spondylectomy and lateral lumbar interbody fusion for thoracolumbar kyphosis in an adult with achondroplasia: A case report.

Medicine (Baltimore) 2017 Dec;96(49):e8983

Department of Orthopaedic Surgery, Oita University, Oita, Japan.

Rationale: Fixed thoracolumbar kyphosis with spinal stenosis in adult patients with achondroplasia presents a challenging issue. We describe the first case in which spondylectomy and minimally invasive lateral access interbody arthrodesis were used for the treatment of fixed severe thoracolumbar kyphosis and lumbar spinal canal stenosis in an adult with achondroplasia.

Patient Concerns: A 61-year-old man with a history of achondroplastic dwarfism presented with low back pain and radiculopathy and neurogenic claudication. Read More

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http://dx.doi.org/10.1097/MD.0000000000008983DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5728885PMC
December 2017
30 Reads

Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with Related Skeletal Dysplasias.

AJNR Am J Neuroradiol 2018 Feb 23;39(2):380-384. Epub 2017 Nov 23.

From the Departments of Medical Imaging (S.A. Manikkam, A.M.F., S.A. Mandelstam).

Thanatophoric dysplasia, achondroplasia, and hypochondroplasia belong to the () group of genetic skeletal disorders. Temporal lobe abnormalities have been documented in thanatophoric dysplasia and hypochondroplasia, and in 1 case of achondroplasia. We retrospectively identified 13 children with achondroplasia who underwent MR imaging of the brain between 2002 and 2015. Read More

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http://www.ajnr.org/lookup/doi/10.3174/ajnr.A5468
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http://dx.doi.org/10.3174/ajnr.A5468DOI Listing
February 2018
13 Reads

Occult Spinal Cord Injury after Blunt Force Trauma in a Patient with Achondroplasia: A Case Report and Review of Trauma Management Strategy.

J Emerg Med 2017 Oct;53(4):558-562

Department of Emergency Medicine, University of Louisville School of Medicine, Louisville, Kentucky.

Background: Achondroplastic dwarfism is associated with anatomic abnormalities that can predispose to occult injury and challenges in trauma management. Airway anatomy is problematic due to macrocephaly, midface hypoplasia, and a narrow nasopharynx. Manipulation of the neck is very dangerous due to the high likelihood of preexisting cervicomedullary stenosis. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S07364679173046
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http://dx.doi.org/10.1016/j.jemermed.2017.04.037DOI Listing
October 2017
16 Reads

Constitutively-active FGFR3 disrupts primary cilium length and IFT20 trafficking in various chondrocyte models of achondroplasia.

Hum Mol Genet 2018 01;27(1):1-13

INSERM U1163, Institut Imagine, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.

Fibroblast growth factor receptor 3 (FGFR3) gain-of-function mutations cause dwarfisms, including achondroplasia (ACH) and thanatophoric dysplasia (TD). The constitutive activation of FGFR3 disrupts the normal process of skeletal growth. Bone-growth anomalies have been identified in skeletal ciliopathies, in which primary cilia (PC) function is disrupted. Read More

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http://academic.oup.com/hmg/article/27/1/1/4344808
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http://dx.doi.org/10.1093/hmg/ddx374DOI Listing
January 2018
15 Reads

Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations.

Radiographics 2017 Oct;37(6):1813-1830

From the Mallinckrodt Institute of Radiology, Washington University School of Medicine, 510 S Kingshighway Blvd, Campus Box 8131, St Louis, MO 63110 (K.M.S.); Department of Radiology, University of Texas Health Science Center San Antonio, San Antonio, Tex (A.K.S.); and Department of Radiology, University of Iowa College of Medicine, Iowa City, Iowa (S.C.K.).

Fibroblast growth factors and fibroblast growth factor receptors (FGFRs) play important roles in human axial and craniofacial skeletal development. FGFR1, FGFR2, and FGFR3 are crucial for both chondrogenesis and osteogenesis. Mutations in the genes encoding FGFRs, types 1-3, are responsible for various skeletal dysplasias and craniosynostosis syndromes. Read More

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http://dx.doi.org/10.1148/rg.2017170017DOI Listing
October 2017
9 Reads

A Three-Dimensional Study of Midfacial Changes Following Le Fort II Distraction With Zygomatic Repositioning in Syndromic Patients.

J Craniofac Surg 2017 Nov;28(8):e728-e731

*Department of Plastic Surgery, University of Texas Southwestern †Division of Plastic Surgery, Children's Health, Dallas, TX.

Le Fort II distraction with zygomatic repositioning introduced the ability to restore central midfacial height and convexity independent of changes in orbital morphology. This study analyzes midfacial and orbital morphology before and after Le Fort II distraction with zygomatic repositioning.All patients who underwent Le Fort II Distraction with zygomatic repositioning between 2013 and 2015 were included. Read More

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http://dx.doi.org/10.1097/SCS.0000000000003869DOI Listing
November 2017
13 Reads

Sinus pericranii in achondroplasia: a case report and review of the literature.

Clin Dysmorphol 2017 Oct;26(4):252-255

aDepartment of Medical and Molecular Genetics bDivision of Pediatric Neurosurgery, Goodman Campbell Brain and Spine, Indiana University School of Medicine, Indianapolis, Indiana, USA.

In the field of dysmorphology, achondroplasia is a well-known disorder. Sinus pericranii (SP), however, is not. The latter condition is a rare vascular malformation characterized by abnormal connections between the intracranial and the extracranial venous drainage pathways. Read More

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http://dx.doi.org/10.1097/MCD.0000000000000196DOI Listing
October 2017
9 Reads

Reverse shoulder arthroplasty in young patient with achondroplasia - Ten year follow up: Case report.

Orthop Traumatol Surg Res 2017 11 5;103(7):1127-1130. Epub 2017 Aug 5.

Orthopaedic Department, AZ Monica Hospital, Deurner, Belgium.

Skeletal dysplasia in achondroplasia can affect all body joints - including the glenohumeral joint - and is prone to develop to degenerative osteoarthritis (OA). This may cause pain and mobility problems at young age. Surgical treatment is challenging due to the dysplastic anatomy of the shoulder joint - with a dysplastic deformed short humerus, a small, hypoplastic medialized glenoid and lateralized acromion - and the long life expectancy of these patients. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S18770568173020
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http://dx.doi.org/10.1016/j.otsr.2017.07.004DOI Listing
November 2017
27 Reads

Quantitative approach to the posterior cranial fossa and craniocervical junction in asymptomatic children with achondroplasia.

Neuroradiology 2017 Oct 17;59(10):1031-1041. Epub 2017 Aug 17.

Polo scienze delle immagini, di laboratorio ed infettivologiche, Area diagnostica per immagini, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli, L.go F. Vito 1, 00168, Roma, Italia.

Purpose: We propose an magnetic resonance imaging (MRI)-based quantitative morphovolumetric approach to the posterior cranial fossa (PCF) and craniocervical junction (CCJ) changes in achondroplastic patients investigating possible associations with ventriculomegaly and medullary compression.

Methods: We analyzed MRI of 13 achondroplastic children not treated by surgery. 3D FSPGR T1-weighted images were used to analyze (1) PCF synchondroses; (2) PCF volume (PCFV), PCF brain volume (PCFBV), PCFV/PCFBV ratio, cerebellar volume, cerebrospinal fluid (CSF) spaces volume, and IV ventricle volume; (3) PCF (clivus, supraocciput, exocciput lengths, tentorial angle) and CCJ (AP and LL diameters of foramen magnum (FM)) morphometry; (4) measurements of FM and jugular foramina (JF) areas; and (5) supratentorial ventricular volume. Read More

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http://dx.doi.org/10.1007/s00234-017-1887-yDOI Listing
October 2017
23 Reads

Skeletal Dysplasias: What Every Bone Health Clinician Needs to Know.

Authors:
Sarah M Nikkel

Curr Osteoporos Rep 2017 10;15(5):419-424

Provinical Medical Genetics Program, BC Women's Hospital and Health Centre, University of British Columbia, 4500 Oak Street, Vancouver, BC, V6H 3N1, Canada.

Purpose Of Review: This review highlights how skeletal dysplasias are diagnosed and how our understanding of some of these conditions has now translated to treatment options.

Recent Findings: The use of multigene panels, using next-generation sequence technology, has improved our ability to quickly identify the genetic etiology, which can impact management. There are successes with the use of growth hormone in individuals with SHOX deficiencies, asfotase alfa in hypophosphatasia, and some promising data for c-type natriuretic peptide for those with achondroplasia. Read More

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http://dx.doi.org/10.1007/s11914-017-0392-xDOI Listing
October 2017
11 Reads

Activated FGFR3 promotes bone formation via accelerating endochondral ossification in mouse model of distraction osteogenesis.

Bone 2017 Dec 10;105:42-49. Epub 2017 Aug 10.

Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Japan.

Achondroplasia (ACH) is one of the most common short-limbed skeletal dysplasias caused by gain-of-function mutations in the fibroblast growth factor receptors 3 (FGFR3) gene. Distraction osteogenesis (DO) is a treatment option for short stature in ACH in some countries. Although the patients with ACH usually show faster healing in DO, details of the newly formed bone have not been examined. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S87563282173018
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http://dx.doi.org/10.1016/j.bone.2017.05.016DOI Listing
December 2017
6 Reads

Pelvic radiograph in skeletal dysplasias: An approach.

Indian J Radiol Imaging 2017 Apr-Jun;27(2):187-199

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

The bony pelvis is constituted by the ilium, ischium, pubis, and sacrum. The pelvic radiograph is an important component of the skeletal survey performed in suspected skeletal dysplasia. Most of the common skeletal dysplasias have either minor or major radiological abnormalities; hence, knowledge of the normal radiological appearance of bony pelvis is vital for recognizing the early signs of various skeletal dysplasias. Read More

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http://dx.doi.org/10.4103/ijri.IJRI_367_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5510317PMC
July 2017
8 Reads

Growth Modulation in Achondroplasia.

J Pediatr Orthop 2017 Sep;37(6):e384-e387

Texas Scottish Rite Hospital, Dallas, TX.

Introduction: Achondroplasia is the most common skeletal dysplasia with a rate of nearly 1/10,000. The development of lower extremity deformity is well documented, and various modes of correction have been reported. There are no reports on the use of growth modulation to correct angular deformity in achondroplasia. Read More

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http://dx.doi.org/10.1097/BPO.0000000000001045DOI Listing
September 2017
3 Reads

Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis.

Radiol Med 2017 Nov 3;122(11):880-891. Epub 2017 Jul 3.

Prenatal Diagnosis Unit, Department of Obstretics and Gynecology, ASST Spedali Civili of Brescia, Brescia, Italy.

Objective: The purpose of the paper was to assess the morphometric parameters to improve the specificity of the ultrasound (US) signs for the early differential diagnosis between two lethal dysplasias, as thanatophoric dysplasia (TD) and osteogenesis imperfecta type 2 (OI-2).

Method: The diaphyseal length and the bowed shape of long bones associated with vertebral body dimension assessment were investigated in a group of 14 pregnancy terminations carried out in the time period 2007-2013. The definitive diagnosis was established after pregnancy termination by means of skeletal standardized X-rays, histopathology and gene analysis. Read More

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http://link.springer.com/10.1007/s11547-017-0784-0
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http://dx.doi.org/10.1007/s11547-017-0784-0DOI Listing
November 2017
18 Reads

Circulatory CNP Rescues Craniofacial Hypoplasia in Achondroplasia.

J Dent Res 2017 Dec 23;96(13):1526-1534. Epub 2017 Jun 23.

1 Department of Oral and Maxillofacial Surgery, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

Achondroplasia is the most common genetic form of human dwarfism, characterized by midfacial hypoplasia resulting in occlusal abnormality and foramen magnum stenosis, leading to serious neurologic complications and hydrocephalus. Currently, surgery is the only way to manage jaw deformity, neurologic complications, and hydrocephalus in patients with achondroplasia. We previously showed that C-type natriuretic peptide (CNP) is a potent stimulator of endochondral bone growth of long bones and vertebrae and is also a potent stimulator in the craniofacial region, which is crucial for midfacial skeletogenesis. Read More

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http://dx.doi.org/10.1177/0022034517716437DOI Listing
December 2017
12 Reads

Can biparietal diameter-to-femur length ratio be a useful sonographic marker for screening thanatophoric dysplasia since the first trimester? A literature review of case reports and a retrospective study based on 10,293 routine fetal biometry measurements.

Taiwan J Obstet Gynecol 2017 Jun;56(3):374-378

Center for Maternal, Fetal and Neonatal Medicine, Saitama Medical Center, Saitama Medical University, 1981 Kamoda, Kawagoe, Saitama 350-8550, Japan.

Objective: The aim of the study was to determine whether the biparietal diameter/femur length (BPD/FL) ratio can be used to detect thanatophoric dysplasia in the first trimester of pregnancy.

Materials And Methods: Twenty-four reported cases of thanatophoric dysplasia diagnosed based on ultrasonographic results with molecular or radiographic diagnosis were included. All sonographic measurement records were extracted and reviewed, and the BPD/FL ratio was calculated for each gestational week. Read More

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http://dx.doi.org/10.1016/j.tjog.2017.04.021DOI Listing
June 2017
32 Reads

Anesthesia for Pulmonary Endarterectomy and Extracorporeal Membrane Oxygenation in a Patient With Achondroplasia.

J Cardiothorac Vasc Anesth 2017 10 8;31(5):1789-1794. Epub 2017 Feb 8.

Toronto General Hospital, Toronto, ON, Canada.

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http://dx.doi.org/10.1053/j.jvca.2017.02.038DOI Listing
October 2017
5 Reads

Evaluation of the external fixator TrueLok Hexapod System for tibial deformity correction in children.

Orthop Traumatol Surg Res 2017 09 17;103(5):761-764. Epub 2017 Apr 17.

Orthopédie pédiatrique, hôpital d'enfants de la Timone, Aix-Marseille université, 264, rue Saint-Pierre, 13005 Marseille, France.

Background: Tibial deformities are common in paediatric orthopaedic practice. Correcting multiplanar tibial deformities associated with lower limb length discrepancy can be challenging. Hexapod external fixation with gradual correction has been proven effective in this situation. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S18770568173011
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http://dx.doi.org/10.1016/j.otsr.2017.03.015DOI Listing
September 2017
16 Reads

Avascular Retinal Findings in a Child With Achondroplasia.

Ophthalmic Surg Lasers Imaging Retina 2017 03;48(3):272-274

The authors present clinical and angiographic findings in a 12-year-old girl with achondroplasia who presented with bilateral retinal peripheral nonperfusion and unilateral rhegmatogenous retinal detachment, which has not been previously described in achondroplasia. This report contributes incremental knowledge regarding aberrant retinal vascular phenomena observed in pediatric disease states and implicates the possible role of mutations in the FGFR3 gene in peripheral vascular abnormalities. [Ophthalmic Surg Lasers Imaging Retina. Read More

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http://www.healio.com/doiresolver?doi=10.3928/23258160-20170
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http://dx.doi.org/10.3928/23258160-20170301-14DOI Listing
March 2017
11 Reads

Perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type 1 in a fetus with a c.2419T>G (p.Ter807Gly) (X807G) mutation in FGFR3.

Taiwan J Obstet Gynecol 2017 Feb;56(1):87-92

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

Objective: We present perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type I (TD1) in a fetus.

Case Report: A 28-year-old woman was referred for genetic counseling at 22 weeks of gestation because of abnormal prenatal ultrasound findings. Level II ultrasound examination revealed a narrow chest, shortened and curved long limbs, protrusion of the abdomen, and macrocephaly. Read More

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http://dx.doi.org/10.1016/j.tjog.2016.12.013DOI Listing
February 2017
12 Reads
1.261 Impact Factor

[Clinical analysis of 21 cases with short fetal femur in the third trimester].

Zhonghua Fu Chan Ke Za Zhi 2017 Feb;52(2):86-92

Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing 100853, China.

To analyze the clinical features and to explore the etiology of short fetal femur during the third trimester. From January 2010 to June 2016, 21 singleton pregnancies with short fetal femur detected by ultrasonography during the third trimester were referred to the Chinese PLA General Hospital. Clinical data were collected, karyotype or single nucleotide polymorphism microarray was carried out to detect chromosomal abnormalities, and FGFR3 c. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0529-567X.2017.02.004DOI Listing
February 2017
5 Reads

Ultrasound diagnosis of fetal thanatophoric skeletal dysplasia: Three cases report and a brief review.

J Huazhong Univ Sci Technolog Med Sci 2017 Feb 22;37(1):148-152. Epub 2017 Feb 22.

Renmin Hospital of Wuhan University, Wuhan, 430070, China.

Congenital skeletal deformity of fetus varies and may be attributed to a range of reasons. Congenital skeletal deformity seriously affects body function or even leads to neonatal death directly. The disease brings great pain to victim and their family. Read More

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http://dx.doi.org/10.1007/s11596-017-1708-xDOI Listing
February 2017
10 Reads

Bone robusticity in two distinct skeletal dysplasias diverges from established patterns.

J Orthop Res 2017 11 4;35(11):2392-2396. Epub 2017 May 4.

Hospital for Special Surgery, 535 East 70th Street, New York, New York, 10021.

Achondroplasia (ACH) is a heritable disorder of endochondral bone formation characterized by disproportionate short stature. Osteogenesis imperfecta (OI) is a heritable bone and connective tissue disorder characterized by bone fragility. To investigate bone morphology of these groups, we retrospectively reviewed 169 de-identified bone age films from 20 individuals with ACH, 39 individuals with OI and 37 age- and sex-matched controls (matched to historical measurements from the Bolton-Brush Collection). Read More

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http://dx.doi.org/10.1002/jor.23543DOI Listing
November 2017
13 Reads

Morphological and ultrasonographic study of fetuses with cervical hygroma. A cases series.

Rom J Morphol Embryol 2016 ;57(4):1421-1427

Department of Obstetrics and Gynecology, University Emergency Hospital, Bucharest; Department of Obstetrics, Gynecology and Neonatology, "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania;

Cystic cervical hygroma or cervical cystic lymphangioma is a congenital benign disease of the lymphatic system that is characterized by the accumulation of lymph in the jugular lymphatic sacs of the nuchal region. The factor that causes this pathology is not clarified yet but the physiopathological mechanism seems to be multifactorial. The incidence and prevalence of cervical hygroma are increased in patients with Turner syndrome, Down syndrome, Klinefelter syndrome, Edwards syndrome, Patau syndrome, Noonan syndrome, pterygium syndrome, Cantrell pentalogy, Fryns syndrome, Apert syndrome, Pena-Shokeir syndrome and achondroplasia. Read More

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May 2017
12 Reads

Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2.

J Hum Genet 2017 Mar 24;62(3):447-451. Epub 2016 Nov 24.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.

Desbuquois dysplasia (DBQD) is an autosomal recessive skeletal disorder characterized by growth retardation, joint laxity, short extremities, and progressive scoliosis. DBQD is classified into two types based on the presence (DBQD1) or absence (DBQD2) of characteristic hand abnormalities. CANT1 mutations have been reported in both DBQD1 and DBQD2. Read More

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http://dx.doi.org/10.1038/jhg.2016.143DOI Listing
March 2017
10 Reads

Sleep disordered breathing in children with achondroplasia.

World J Pediatr 2017 Feb 15;13(1):8-14. Epub 2016 Oct 15.

Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, Pediatric Division, University of Verona, Verona, Italy.

Background: Children with achondroplasia often have breathing problems, especially during sleep. The most important treatments are adenotonsillectomy (for treating upper obstruction) and/or neurosurgery (for resolving cervicomedullar junction stenosis).

Data Sources: We reviewed the scientific literature on polysomnographic investigations which assessed the severity of respiratory disorders during sleep. Read More

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http://link.springer.com/10.1007/s12519-016-0051-9
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http://dx.doi.org/10.1007/s12519-016-0051-9DOI Listing
February 2017
12 Reads

Central sleep apnea in children: experience at a single center.

Sleep Med 2016 09 31;25:24-28. Epub 2016 Aug 31.

Pediatric Noninvasive Ventilation and Sleep Unit, AP-HP, Hôpital Necker Enfants-Malades, Paris, France; Paris Descartes University, Paris, France; Inserm U955, Team 13, Créteil Université, Paris XII, Créteil, France.

Objective: Central sleep apnea (CSA) syndromes are rare in children and data in children over one year of age are scarce. The aim of the study was to describe the sleep characteristics, underlying disorders, management, and outcome of children with CSA.

Patients/methods: A retrospective chart review of all children >1 year of age, diagnosed with CSA on a laboratory sleep study during a 20-month period, was performed. Read More

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http://dx.doi.org/10.1016/j.sleep.2016.07.016DOI Listing
September 2016
16 Reads

Maternal administration of meclozine for the treatment of foramen magnum stenosis in transgenic mice with achondroplasia.

J Neurosurg Pediatr 2017 Jan 21;19(1):91-95. Epub 2016 Oct 21.

Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan.

OBJECTIVE Achondroplasia (ACH) is the most common short-limbed skeletal dysplasia caused by gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Foramen magnum stenosis (FMS) is one of the serious neurological complications in ACH. Through comprehensive drug screening, the authors identified that meclozine, an over-the-counter drug for motion sickness, inhibited activation of FGFR3 signaling. Read More

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https://thejns.org/view/journals/j-neurosurg-pediatr/19/1/ar
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http://dx.doi.org/10.3171/2016.7.PEDS16199DOI Listing
January 2017
15 Reads

Walking Out of the Curve: Thoracolumbar Kyphosis in Achondroplasia.

J Pediatr Orthop 2018 Nov/Dec;38(10):491-497

Department of Orthopaedic Surgery, The Johns Hopkins Hospital, Baltimore, MD.

Background: Thoracolumbar kyphosis (TLK) is common in infants with achondroplasia. Our goals were to examine the natural history of TLK and identify factors associated with persistent TLK.

Methods: We reviewed records of patients with achondroplasia seen by a board-certified orthopaedic surgeon at a tertiary care medical center between 1997 and 2013. Read More

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http://dx.doi.org/10.1097/BPO.0000000000000862DOI Listing
December 2018
14 Reads

Early impairment of somatosensory evoked potentials in very young children with achondroplasia with foramen magnum stenosis.

Dev Med Child Neurol 2017 Feb 16;59(2):192-198. Epub 2016 Sep 16.

Head-Neck and Neuroscience Department, Child Neuropsychiatry Unit, Istituto Giannina Gaslini, Genova, Italy.

Aim: To evaluate the contribution of somatosensory evoked potentials after median nerve (MN-SEPs) and posterior tibial nerve (PTN-SEPs) stimulation in functional assessment of cervical and lumbar spinal stenosis in children with achondroplasia.

Method: We reviewed MN-SEPs, PTN-SEPs, and spinal magnetic resonance imaging (MRI) examinations performed in 58 patients with achondroplasia (25 males, 33 females; age range 21d-16y 10mo; mean age 4y 3mo [SD 4y 1mo]). Patients were subdivided into four age categories: <2 years, between 2 to 4 years, between 4 to 8 years, and ≥8 years. Read More

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http://dx.doi.org/10.1111/dmcn.13243DOI Listing
February 2017
20 Reads

Partial nephrectomy in a patient with dwarfism.

Can J Urol 2016 Aug;23(4):8375-8

Division of Urology, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA.

We describe the case of a 50-year-old male with achondroplastic dwarfism who presents with a renal mass in his left kidney concerning for renal cell carcinoma. The patient successfully underwent a robotic partial nephrectomy, which revealed a T1a renal cell carcinoma. The tumor was excised successfully without any intraoperative complications demonstrating that a robotic partial nephrectomy is technically both safe and effective in patients with achondroplastic dwarfism. Read More

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August 2016
7 Reads

Instrumentation Failure After Posterior Vertebral Column Resection in Adult Spinal Deformity.

Spine (Phila Pa 1976) 2017 Apr;42(7):471-478

Department of Orthopaedic Surgery, Peking Union Medical College Hospital (PUMCH), Beijing, People's Republic of China.

Study Design: Retrospective study of instrumentation failure after posterior vertebral column resection (pVCR) in adult spinal deformity (ASD) patients.

Objective: The morbidity and related risk factors of the instrumentation failure.

Summary Of Background Data: Instrumentation failure is another common complication after pVCR. Read More

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http://dx.doi.org/10.1097/BRS.0000000000001844DOI Listing
April 2017
6 Reads

Epileptic phenotype of FGFR3-related bilateral medial temporal lobe dysgenesis.

Brain Dev 2017 Jan 30;39(1):67-71. Epub 2016 Jul 30.

Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan.

Hypochondroplasia (HCH) is a skeletal dysplasia, characterized by short stature and macrocephaly. Clinical symptoms and radiological and histopathological features of HCH are similar, but milder than those seen in achondroplasia. Particularly, HCH patients with Asn540Lys mutation in the FGFR3 gene are reported to have medial temporal lobe dysgenesis and epilepsy. Read More

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http://dx.doi.org/10.1016/j.braindev.2016.07.004DOI Listing
January 2017
19 Reads

Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia.

Mol Med Rep 2016 Sep 8;14(3):2180-6. Epub 2016 Jul 8.

Department of Osteoporosis and Bone Diseases, Metabolic Bone Disease and Genetic Research Unit, Sixth People's Hospital Affiliated to Shanghai Jiao Tong University, Shanghai 200233, P.R. China.

Pseudoachondroplasia (PSACH; MIM no. 177170) is an autosomal dominant osteochondrodysplasia characterized by short‑limb short stature, brachydactyly and early‑onset osteoarthropathy. Typically, at approximately two years of age, the rate of growth falls below the standard growth curve, causing a moderately severe form of disproportionate short‑limb short stature. Read More

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http://dx.doi.org/10.3892/mmr.2016.5486DOI Listing
September 2016
8 Reads

Achondroplasia.

Nurs Child Young People 2016 Jul;28(6):15

Oxford University Hospitals NHS Trust.

Achondroplasia, like all syndromes, is recognised by a collection of typical anomalies. It is a cause of short stature; the average adult height being about 4 feet. Read More

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http://dx.doi.org/10.7748/ncyp.28.6.15.s19DOI Listing
July 2016
3 Reads

Dynamic Lower Extremity Deformity in Children With Pseudoachondroplasia.

J Pediatr Orthop 2018 Mar;38(3):157-162

Department of Orthopaedics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE.

Background: Pseudoachondroplasia is a diverse group of skeletal dysplasias with a common pathway of altered cartilage oligomeric matrix protein (COMP) production. This rhizomelic dwarfism is commonly associated with deformities of the lower extremities, accelerated osteoarthritis, and ligamentous laxity. One of the most common alignment problems is coronal knee angulation which combined with tibial torsion, results in a complex deformity. Read More

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http://dx.doi.org/10.1097/BPO.0000000000000798DOI Listing
March 2018
13 Reads

Arthroscopic Treatment of Discoid Lateral Meniscus Tears in Children With Achondroplasia.

J Pediatr Orthop 2016 Jul-Aug;36(5):e55-8

Department of Orthopaedic Surgery, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE.

Background: Achondroplasia is the most common form of skeletal dysplasia that presents to the pediatric orthopaedist. More than half of achondroplasia patients are affected with knee pain. It is thought that the majority of this pain may be due to spinal stenosis, hip pathology, or knee malalignment. Read More

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http://dx.doi.org/10.1097/BPO.0000000000000622DOI Listing
April 2017
9 Reads

Meckel's and condylar cartilages anomalies in achondroplasia result in defective development and growth of the mandible.

Hum Mol Genet 2016 07 3;25(14):2997-3010. Epub 2016 Jun 3.

INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France

Activating FGFR3 mutations in human result in achondroplasia (ACH), the most frequent form of dwarfism, where cartilages are severely disturbed causing long bones, cranial base and vertebrae defects. Because mandibular development and growth rely on cartilages that guide or directly participate to the ossification process, we investigated the impact of FGFR3 mutations on mandibular shape, size and position. By using CT scan imaging of ACH children and by analyzing Fgfr3 mice, a model of ACH, we show that FGFR3 gain-of-function mutations lead to structural anomalies of primary (Meckel's) and secondary (condylar) cartilages of the mandible, resulting in mandibular hypoplasia and dysmorphogenesis. Read More

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http://dx.doi.org/10.1093/hmg/ddw153DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5181594PMC
July 2016
36 Reads