2,727 results match your criteria Achondroplasia


Autologous breast reconstruction in patients with achondroplasia: Reconstructive and anaesthetic challenges.

J Plast Reconstr Aesthet Surg 2019 Mar 14. Epub 2019 Mar 14.

Department of Plastic and Reconstructive Surgery, Knowsley and St Helens NHS Trust, Whiston Hospital, Warrington Road, Prescot L35 5DR, Merseyside, United Kingdom.

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http://dx.doi.org/10.1016/j.bjps.2019.02.007DOI Listing

Current and Emerging Therapeutic Options for the Management of Rare Skeletal Diseases.

Paediatr Drugs 2019 Apr 3. Epub 2019 Apr 3.

Children's and Adolescent's Hospital, University of Cologne, Cologne, Germany.

Increasing knowledge in the field of rare diseases has led to new therapeutic approaches in the last decade. Treatment strategies have been developed after elucidation of the underlying genetic alterations and pathophysiology of certain diseases (e.g. Read More

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http://link.springer.com/10.1007/s40272-019-00330-0
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http://dx.doi.org/10.1007/s40272-019-00330-0DOI Listing
April 2019
7 Reads

Current knowledge of medical complications in adults with achondroplasia: A scoping review.

Clin Genet 2019 Mar 27. Epub 2019 Mar 27.

Sunnaas Rehabilitation Hospital, TRS National Resource Centre for Rare Disorders, Nesoddtangen, Norway.

This article provides an overview of the current knowledge on medical complications, health characteristics, and psychosocial issues in adults with achondroplasia. We have used a scoping review methodology particularly recommended for mapping and summarizing existing research evidence, and to identify knowledge gaps. The review process was conducted in accordance with the PRISMA-ScR guidelines (Preferred Reporting Items for Systematic reviews and Meta-Analyses Extension for Scoping Reviews). Read More

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http://dx.doi.org/10.1111/cge.13542DOI Listing
March 2019
1 Read

Whole-body and segmental analysis of body composition in adult males with achondroplasia using dual X-ray absorptiometry.

PLoS One 2019 19;14(3):e0213806. Epub 2019 Mar 19.

Health, Exercise and Active Living Research, Manchester Metropolitan University, Manchester, England.

Achondroplasia is a condition characterized by a genetic mutation affecting long bone endplate development. Current data suggests that the bone mineral content (BMC) and bone mineral density (BMD) of achondroplasic populations are below age matched individuals of average stature (controls). Due to the disproportionate limb-to-torso length compared to controls however, the lower BMC and BMD may be nullified when appropriately presented. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0213806PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6424418PMC
March 2019
1 Read

Height growth velocity during infancy and childhood in achondroplasia.

Am J Med Genet A 2019 Mar 19. Epub 2019 Mar 19.

Growth and Development, Pediatric Garrahan Hospital, Buenos Aires, Argentina.

There is a lack of knowledge about longitudinal growth during childhood in achondroplasia. We report patterns of linear growth and height growth velocity references. The sample consisted of 84 children, 41 girls and 43 boys. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61120
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http://dx.doi.org/10.1002/ajmg.a.61120DOI Listing
March 2019
7 Reads
2.159 Impact Factor

Ossification of the Ligamentum Flavum at the Thoracic and Lumbar Region in an Achondroplastic Patient: A Case report.

World Neurosurg 2019 Mar 12. Epub 2019 Mar 12.

Cagatay Ozturk: Istinye University Medical Faculty, Orthopedics and Traumatology Department, Istanbul, Turkey.

Background: Achondroplasia, a genetic disorder of bone growth, produces specific clinical features of the extremities and spine. Spinal stenosis, seen in patients with achondroplasia, is a congenital disorder related to premature fusion of the pedicles to the lamina. It can be caused by ossification of the ligamentum flavum, which is rare in patients with achondroplasia. Read More

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http://dx.doi.org/10.1016/j.wneu.2019.03.028DOI Listing
March 2019
2.417 Impact Factor

An audit on a routine antenatal nonstress testing program in pregnant women with preexisting diabetes.

Acta Obstet Gynecol Scand 2019 Mar 2. Epub 2019 Mar 2.

Center for Pregnant Women with Diabetes, Rigshospitalet University Hospital, Copenhagen, Denmark.

Introduction: The objective was to evaluate the effectiveness of routine (planned) antenatal nonstress tests (NSTs) in pregnant women with preexisting diabetes.

Material And Methods: A retrospective single-center study of 642 consecutive pregnancies in women with preexisting diabetes who gave birth to a singleton ≥22 weeks. Weekly planned NSTs were commenced at 33-35 weeks. Read More

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http://dx.doi.org/10.1111/aogs.13602DOI Listing
March 2019
2 Reads

An Adult Case of Pulmonary Artery Sling Accompanied by Tracheobronchomalacia.

Intern Med 2019 Feb 1. Epub 2019 Feb 1.

Department of Respiratory Medicine, National Hospital Organization Tokyo Medical Center, Japan.

Pulmonary artery (PA) sling is a congenital disease in which the left PA abnormally arises from the right PA and is usually diagnosed during the infantile period. We present an adult case of PA sling accompanied by tracheobronchomalacia found in a 49-year-old woman with a history of recurrent pneumonia. Computed tomography of the chest showed that the left lung was nourished by two aberrant PAs. Read More

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http://dx.doi.org/10.2169/internalmedicine.2089-18DOI Listing
February 2019
2 Reads

Physical, Mental, and Social Problems of Adolescent and Adult Patients with Achondroplasia.

Calcif Tissue Int 2019 Apr 1;104(4):364-372. Epub 2019 Feb 1.

Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-ku, Nagoya, 466-8550, Japan.

Patients with achondroplasia (ACH) require various medical interventions throughout the lifetime. Survey of health-related quality of life (HRQoL) in adult ACH patients is essential for the evaluation of treatment outcomes performed during childhood such as growth hormone administration and limb lengthening surgeries, but no study focused on the treatment strategy by analyzing HRQoL of ACH patients. The purpose of this study was to assess whether final height impacted on HRQoL and to evaluate what kinds of medical interventions were positively or negatively associated with HRQoL. Read More

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http://link.springer.com/10.1007/s00223-019-00518-z
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http://dx.doi.org/10.1007/s00223-019-00518-zDOI Listing
April 2019
2 Reads

Robotic surgery in patients with achondroplastic dwarfism: evaluation of risks and issues in an anatomical challenging bilateral partial nephrectomy.

J Robot Surg 2019 Jan 23. Epub 2019 Jan 23.

Department of Urology, San Raffaele Turro Hospital, San Raffaele University, Milan Via Stamira d'Ancona, 20, 20127, Milano, Italy.

The reports on the performance of robotic surgery in patients with dwarfism are anecdotal; anesthesiological issues and a challenging anatomy are the main factors that lead most of surgeons to prefer a more traditional approach. We present a case of bilateral robotic partial nephrectomy in a patient affected by achondroplastic dwarfism and aim to evaluate risks and issues in this type of surgery. Read More

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http://dx.doi.org/10.1007/s11701-018-00904-zDOI Listing
January 2019
4 Reads

Successful Surgical Therapy of Gross Thoracolumbar Kyphosis in a Boy With Achondroplasia.

World Neurosurg 2019 Jan 17. Epub 2019 Jan 17.

Department of Radiology, Medical Faculty, Ataturk University, Erzurum, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.wneu.2018.12.201DOI Listing
January 2019

Paediatric orthopaedics through paintings.

J Child Orthop 2018 Dec;12(6):647-651

Department of Orthopaedics and Traumatology, Sivas Numune Hospital, Sivas, Turkey.

Purpose: Some famous artistic representations created throughout the centuries can reveal a hidden or mysterious diagnosis of some diseases and these paintings have always drawn the attention of physicians interested in art. Artistic illustration of a child with a malformation or disability can reflect the characteristic appearance of a disease and its historic perspective. Some articles have revealed the definite diagnosis of a child with achondroplasia through portraits of dwarfs and some studies have discussed the secret diagnosis of a crippled child with Pes Equinovarus or poliomyelitis. Read More

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https://online.boneandjoint.org.uk/doi/10.1302/1863-2548.12.
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http://dx.doi.org/10.1302/1863-2548.12.180141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293333PMC
December 2018
8 Reads

Achondroplasia: a comprehensive clinical review.

Authors:
Richard M Pauli

Orphanet J Rare Dis 2019 01 3;14(1). Epub 2019 Jan 3.

Midwest Regional Bone Dysplasia Clinic, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, 1500 Highland Ave., Madison, WI, 53705, USA.

Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although its clinical and radiologic phenotype has been described for more than 50 years, there is still a great deal to be learned about the medical issues that arise secondary to this diagnosis, the manner in which these are best diagnosed and addressed, and whether preventive strategies can ameliorate the problems that can compromise the health and well being of affected individuals. This review provides both an updated discussion of the care needs of those with achondroplasia and an exploration of the limits of evidence that is available regarding care recommendations, controversies that are currently present, and the many areas of ignorance that remain. Read More

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
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http://dx.doi.org/10.1186/s13023-018-0972-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318916PMC
January 2019
2 Reads

Sagittal Spinopelvic Parameters in Children With Achondroplasia.

Spine Deform 2019 01;7(1):163-170

Department of Orthopedics, Nemours/Alfred I. duPont Hospital for Children, PO Box 269, Wilmington, DE 19899, USA. Electronic address:

Study Design: Retrospective cross-sectional, longitudinal radiographic analysis.

Objective: To report the natural history of spinopelvic parameters in achondroplasia.

Summary Of Background Data: Sagittal spinal deformity is common in children with achondroplasia. Read More

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http://dx.doi.org/10.1016/j.jspd.2018.06.001DOI Listing
January 2019

Bone dysplasias in 1.6 million births in Argentina.

Eur J Med Genet 2018 Dec 17. Epub 2018 Dec 17.

National Network of Congenital Anomalies in Argentina (RENAC), National Center of Medical Genetics, National Administration of Laboratories and Health Institutes, National Ministry of Health, Argentina. Electronic address:

Currently accepted birth prevalence for osteochondrodysplasias (OCDs) is about 2 per 10,000 births. Our main goal is to estimate the prevalence of OCDs in Argentina and compare it with other surveillance systems. We examined 1,663,610 births among 160 hospitals of RENAC (Red Nacional de Anomalías Congénitas - National Network of Congenital Anomalies) between November 2009 and December 2016. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183059
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http://dx.doi.org/10.1016/j.ejmg.2018.12.008DOI Listing
December 2018
12 Reads
1.486 Impact Factor

Screening and surgery for foramen magnum stenosis in children with achondroplasia: a large, national database analysis.

J Neurosurg Pediatr 2018 12;23(3):374-380

2Department of Neurosurgery, University of Michigan, Ann Arbor, Michigan.

OBJECTIVE The goal of this study was to determine the rates of screening and surgery for foramen magnum stenosis in children with achondroplasia in a large, privately insured healthcare network. METHODS Rates of screening and surgery for foramen magnum stenosis in children with achondroplasia were determined using de-identified insurance claims data from a large, privately insured healthcare network of over 58 million beneficiaries across the United States between 2001 and 2014. Cases of achondroplasia and screening and surgery claims were identified using a combination of International Classification of Diseases diagnosis codes and Current Procedural Terminology codes. Read More

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http://dx.doi.org/10.3171/2018.9.PEDS18410DOI Listing
December 2018
2 Reads

Structure, activation and dysregulation of fibroblast growth factor receptor kinases: perspectives for clinical targeting.

Biochem Soc Trans 2018 12 13;46(6):1753-1770. Epub 2018 Dec 13.

Astbury Centre for Structural Molecular Biology, Faculty of Biological Sciences, University of Leeds, Leeds LS2 9JT, U.K.

The receptor tyrosine kinase family of fibroblast growth factor receptors (FGFRs) play crucial roles in embryonic development, metabolism, tissue homeostasis and wound repair via stimulation of intracellular signalling cascades. As a consequence of FGFRs' influence on cell growth, proliferation and differentiation, FGFR signalling is frequently dysregulated in a host of human cancers, variously by means of overexpression, somatic point mutations and gene fusion events. Dysregulation of FGFRs is also the underlying cause of many developmental dysplasias such as hypochondroplasia and achondroplasia. Read More

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http://dx.doi.org/10.1042/BST20180004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6299260PMC
December 2018
3 Reads

Surgical technique and outcomes for bilateral humeral lengthening for achondroplasia: 26-year experience.

Musculoskelet Surg 2018 Dec 10. Epub 2018 Dec 10.

ICATME, Hospital Universitari Quiron-Dexeus, Carrer Sabino de Arana, 5-19, 08028, Barcelona, Spain.

Background: Elongation in patients with achondroplasia provides better overall skeletal proportionality and significantly improves such individuals' access to their perineal region to self-manage personal hygiene. This paper describes our surgical technique and outcomes for bilateral humeral lengthening in achondroplasia patients over 26 years.

Methods: Ours was a retrospective study of 55 patients with achondroplasia-related short stature, in whom bilateral humeral lengthening was performed from 1990 to 2016. Read More

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http://dx.doi.org/10.1007/s12306-018-0583-3DOI Listing
December 2018
2 Reads

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
4 Reads

Sustained hip flexion contracture after femoral lengthening in patients with achondroplasia.

BMC Musculoskelet Disord 2018 Nov 29;19(1):417. Epub 2018 Nov 29.

Department of Orthopaedic Surgery and Institute for Rare Diseases, Korea University Medical Center, Guro Hospital, 148 Gurodong-ro, Guro-gu, Seoul, 152-703, Republic of Korea.

Background: Hip flexion contracture often occurs after femoral lengthening in patients with achondroplasia, but few studies have investigated its development in these patients. The purpose of this study was to analyze sustained hip flexion contracture in achondroplasia patients who underwent femoral lengthening and to identify contributing factors.

Methods: This study included 34 patients with achondroplasia who underwent femoral lengthening (mean age at operation, 11. Read More

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http://dx.doi.org/10.1186/s12891-018-2344-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6267876PMC
November 2018
2 Reads

Optimizing CRISPR/Cas9 technology for precise correction of the Fgfr3-G374R mutation in achondroplasia in mice.

J Biol Chem 2019 01 28;294(4):1142-1151. Epub 2018 Nov 28.

From the Cancer Center, Faculty of Health Sciences and

CRISPR/Cas9 is a powerful technology widely used for genome editing, with the potential to be used for correcting a wide variety of deleterious disease-causing mutations. However, the technique tends to generate more indels (insertions and deletions) than precise modifications at the target sites, which might not resolve the mutation and could instead exacerbate the initial genetic disruption. We sought to develop an improved protocol for CRISPR/Cas9 that would correct mutations without unintended consequences. Read More

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http://dx.doi.org/10.1074/jbc.RA118.006496DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349110PMC
January 2019
3 Reads

A quantitative description of self-selected walking in adults with Achondroplasia using the gait profile score.

Gait Posture 2019 02 16;68:150-154. Epub 2018 Nov 16.

Health, Exercise and Active Living Research, Manchester Metropolitan University, United Kingdom.

Background: Achondroplasia is characterised by a shorter appendicular limb-to-torso ratio, compared to age matched individuals of average stature (controls). Previous work shows gait kinematics of individuals with Achondroplasia differing to controls, but no global quantification of gait has been made in adults with Achondroplasia.

Aim: The aim of this study was to quantify gait differences between a group of adult males with Achondroplasia and controls during self-selected walking (SSW) using the Gait Profile Score (GPS). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09666362183050
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http://dx.doi.org/10.1016/j.gaitpost.2018.11.019DOI Listing
February 2019
19 Reads

Mesenchymal stem cells as adjuvant therapy for limb lengthening in achondroplasia.

J Pediatr Orthop B 2019 May;28(3):221-227

IV Division of Orthopaedics and Traumatology, 'Gaetano Pini' Orthopaedic Institute.

Staged leg lengthening allows achondroplastic dwarfs to reach nearly normal height, but it takes long periods of external fixation and it can be burdened by delayed unions. Between 2009 and 2013, eight achondroplastic dwarfs showed delayed unions in the callus formation during femoral lengthening stages in our institute. We performed in-situ injections of bone marrow-derived stem cell concentrates. Read More

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http://dx.doi.org/10.1097/BPB.0000000000000571DOI Listing
May 2019
22 Reads

Molecular Confirmation of G1138A Mutation in FGFR gene in Achondroplasia.

JNMA J Nepal Med Assoc 2018 Mar-Apr;56(211):683-686

Institute of Medicine, Maharajgunj Medicine Campus, Tribhuvan University, Maharajgunj, Kathmandu, Nepal.

Introduction: Achondroplasia is the most common form of skeletal dysplasia of genetic origin in humans which is characterized by disproportionate rhizomelic dwarfism. Heterozygous mutation in the transmembrane domain of the FGFR3 gene (4p16.3) occurs as a de novo mutation in most of the cases. Read More

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November 2018
6 Reads

Acanthosis nigricans in achondroplasia.

Am J Med Genet A 2018 Dec 31;176(12):2630-2636. Epub 2018 Oct 31.

Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.

Acanthosis nigricans (AN) in those with achondroplasia has been reported occasionally in the literature previously. Other disorders arising from constitutive activation of FGFR3 also manifest AN at various frequencies. We assessed the prevalence of AN in a sequential series of 477 individuals with achondroplasia. Read More

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http://dx.doi.org/10.1002/ajmg.a.40506DOI Listing
December 2018
2 Reads

Growth Hormone Treatment for Achondroplasia.

Pediatr Endocrinol Rev 2018 Sep;16(Suppl 1):123-128

Division of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, Miyakojima, Osaka, Japan.

Achondroplasia (ACH) is the most common form of skeletal dysplasia causing rhizomelic, short-limb short stature. Short- and long-term clinical trials have been conducted with rhGH, with similar results across these studies. At supraphysiological dose of GH, height gain of 1-1. Read More

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https://www.pediatricendoreviews.com/
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http://dx.doi.org/10.17458/per.vol16.2018.yhk.ghachondroplasiaDOI Listing
September 2018
19 Reads

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.

Genome Res 2018 12 24;28(12):1779-1790. Epub 2018 Oct 24.

Clinical Genetics Group, MRC-Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, United Kingdom.

Mosaic mutations present in the germline have important implications for reproductive risk and disease transmission. We previously demonstrated a phenomenon occurring in the male germline, whereby specific mutations arising spontaneously in stem cells (spermatogonia) lead to clonal expansion, resulting in elevated mutation levels in sperm over time. This process, termed "selfish spermatogonial selection," explains the high spontaneous birth prevalence and strong paternal age-effect of disorders such as achondroplasia and Apert, Noonan and Costello syndromes, with direct experimental evidence currently available for specific positions of six genes (, , , , , and ). Read More

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http://genome.cshlp.org/lookup/doi/10.1101/gr.239186.118
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http://dx.doi.org/10.1101/gr.239186.118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6280762PMC
December 2018
6 Reads

Sleep-disordered breathing in paediatric setting: existing and upcoming of the genetic disorders.

Ann Transl Med 2018 Sep;6(17):343

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

Childhood obstructive sleep apnea syndrome (OSAS) is characterized by anatomical and functional upper airway abnormalities as pathophysiological determinants, and clinical symptoms are frequently clear. OSAS is widely described in rare genetic disorders, such as achondroplasia, Down syndrome, Prader-Willi syndrome, Pierre Robin sequence, and mucopolysaccharidosis. Craniofacial and upper airway involvement is frequently morbid conditions. Read More

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http://atm.amegroups.com/article/view/20593/20751
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http://dx.doi.org/10.21037/atm.2018.07.13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174189PMC
September 2018
6 Reads

Achondroplasia: Orocraniofacial Features and Orthodontic-Surgical Management Guidelines Proposal.

J Craniofac Surg 2018 Nov;29(8):2186-2191

Department of Oral and Maxillofacial Surgery, University of Lille, CHU Lille.

In this study, the authors aimed to describe orocraniofacial features and to suggest orthodontic-surgical managements in achondroplasia, based on a literature review. The authors focused on skeletal and dentoalveolar malocclusion in order to highlight the place of orthognathic surgery, based on our experience of 3 patients. Maxillary hypoplasia in achondroplasia typically results in an Angle class III malocclusion with an anterior open bite. Read More

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http://dx.doi.org/10.1097/SCS.0000000000004819DOI Listing
November 2018
30 Reads

Multicenter study of mortality in achondroplasia.

Am J Med Genet A 2018 Nov 1;176(11):2359-2364. Epub 2018 Oct 1.

Department of Pediatrics, McGovern Medical School at UTHealth, Houston, Texas.

Sudden death and higher mortality are recognized in achondroplasia, with acute brainstem compression, a common cause of mortality in children <4 years and cardiovascular deaths being more prevalent in adults. Although, changes in clinical management have improved survival, mortality is still higher than in the general population. The aim of this multicenter clinic-based study was to assess the rate and causes of mortality in patients seen in clinic since 1986. Read More

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http://doi.wiley.com/10.1002/ajmg.a.40528
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http://dx.doi.org/10.1002/ajmg.a.40528DOI Listing
November 2018
25 Reads

Parent-child co-sleeping in children with co-morbid conditions and sleep-disordered breathing.

Sleep Breath 2019 Mar 5;23(1):327-332. Epub 2018 Sep 5.

Pediatric noninvasive ventilation and sleep unit, AP-HP, Hôpital Necker Enfants-Malades, Paris, France.

Purpose: Co-sleeping is common in children with co-morbid conditions. The aim of the study was to analyze the prevalence and determinants of parent-child co-sleeping in children with co-morbid conditions and sleep-disordered breathing and the impact on parental sleep.

Methods: Parents of consecutive children undergoing a sleep study filled in a questionnaire on co-sleeping. Read More

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http://dx.doi.org/10.1007/s11325-018-1710-yDOI Listing
March 2019
5 Reads

A case of excessive femoral anteversion which caused instability of the medial collateral ligament of the knee joint.

Ann Med Surg (Lond) 2018 Oct 27;34:17-22. Epub 2018 Aug 27.

Department of Orthopedic Surgery, Graduate School of Biomedical Sciences, Nagasaki University, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan.

Introduction: The most cases of excessive femoral anteversion may be asymptomatic, because the he hip joint is a ball joint. However, when the hip, knee, or ankle joint is in a pathological state, excessive femoral anteversion may not be compensated for and induce symptoms.

Case Report: A 16-year-old female with achondroplasia. Read More

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http://dx.doi.org/10.1016/j.amsu.2018.08.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6123062PMC
October 2018
3 Reads

Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants.

Am J Med Genet A 2018 07;176(7):1675-1679

Department of Medical Genetics, University of Washington Medical Center, Seattle, Washington.

Pathogenic variants in the fibroblast growth factor receptor 3 (FGFR3) gene are responsible for a broad spectrum of skeletal dysplasias, including achondroplasia (ACH). The classic phenotype of ACH is caused by two highly prevalent mutations, c.1138G > A and c. Read More

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http://dx.doi.org/10.1002/ajmg.a.38839DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6121735PMC
July 2018
5 Reads
2.160 Impact Factor

Development of body proportions in achondroplasia: Sitting height, leg length, arm span, and foot length.

Am J Med Genet A 2018 Sep 27;176(9):1819-1829. Epub 2018 Aug 27.

Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.

The aims of this study was to construct references for sitting height, leg length, arm span, relative sitting height (sitting height/height), and foot length and to discuss the development for these anthropometric variables in achondroplasia. Sex-specific references covering ±2 SD are presented for ages 2-20 years. Legs and arms in achondroplasia are already at 2 years of age considerably shorter than in the general population and this deviation increases with age. Read More

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http://doi.wiley.com/10.1002/ajmg.a.40356
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http://dx.doi.org/10.1002/ajmg.a.40356DOI Listing
September 2018
29 Reads

Achondroplasia With Congenital Onset Glaucoma, and Presumed Axenfeld-Rieger Anomaly.

J Glaucoma 2018 Oct;27(10):e165-e167

Department of Ophthalmology, University of Florida, Gainesville, FL.

We report the first case to our knowledge of a 1-week-old female infant with familial inherited achondroplasia associated with bilateral congenital onset glaucoma, posterior embryotoxon and iris hypoplasia suggestive of ocular Axenfeld-Rieger anomaly. Read More

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http://Insights.ovid.com/crossref?an=00061198-900000000-9837
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http://dx.doi.org/10.1097/IJG.0000000000001046DOI Listing
October 2018
13 Reads

Achondroplasia with SRY-positive 46, XX disorder of sex development: an extremely rare association.

Endocrinol Diabetes Metab Case Rep 2018 26;2018. Epub 2018 Jul 26.

Department of Diabetes and Endocrinology, Flinders Medical Centre, Bedford Park, South Australia, Australia.

A 40-year-old man with achondroplasia presented with symptoms of hypogonadism, low libido and gynaecomastia. He was found to have hypergonadotropic hypogonadism, and karyotype and fluorescent hybridisation analysis showed -positive 46, XX disorder of sex development (DSD). He was tested to have the common activating mutation of the gene implicated in achondroplasia, indicating that he had the two rare conditions independently, with an extremely low incidence of 1 in 400 million. Read More

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http://dx.doi.org/10.1530/EDM-18-0054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6063987PMC
July 2018
21 Reads

Morphological and Mechanical Properties of the Human Patella Tendon in Adult Males With Achondroplasia.

Front Physiol 2018 20;9:867. Epub 2018 Jul 20.

Health, Exercise and Active Living Research, Manchester Metropolitan University, Manchester, United Kingdom.

Achondroplasia is a genetic mutation of fibroblast growth factor receptor resulting in impaired growth plate development in long bones due to lower collagen turnover. Despite the characteristic shorter stature and lower strength in Achondroplasic groups, little is known of the tendon mechanical properties under loading. The aim of this study was therefore to conduct a between measure design of patella tendon (PT) mechanical properties (stress, strain, stiffness and Young's Modulus) in 10 men with Achondroplasia (22 ± 3 years) and 17 male controls (22 ± 2 years). Read More

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http://dx.doi.org/10.3389/fphys.2018.00867DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6063341PMC
July 2018
3 Reads

Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort.

Am J Med Genet A 2018 Aug 2;176(8):1723-1734. Epub 2018 Aug 2.

Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.

As growth references for achondroplasia are limited to reports from United States, Japan, Argentina, and Australia, the aim of this study was to construct growth references for height, weight, head circumference, and body mass index (BMI) from a European cohort of children with achondroplasia and to discuss the development of these anthropometric variables. A mix of cross-sectional and longitudinal, retrospective, and prospective data from 466 children with achondroplasia and 4,375 measuring occasions were modeled with generalized additive model for location, scale and shape (GAMLSS) to sex-specific references for ages 0 to 20 years. Loss in height position, that is, reduction in height standard deviation scores, occurred mainly during first 2 years of life while pubertal growth seemed normal if related to adult height. Read More

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http://doi.wiley.com/10.1002/ajmg.a.38853
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http://dx.doi.org/10.1002/ajmg.a.38853DOI Listing
August 2018
13 Reads

Outpatient initiation of long-term continuous positive airway pressure in children.

Pediatr Pulmonol 2018 Oct 1;53(10):1422-1428. Epub 2018 Aug 1.

Pediatric Noninvasive Ventilation and Sleep Unit, AP-HP, Hôpital Necker-Enfants Malades, Paris, France.

Introduction: Current guidelines recommend initiating continuous positive airway pressure (CPAP) in children during an overnight in-hospital titration study. Due to a shortage of hospital beds and economic constraints, we started a program for outpatient initiation of CPAP in selected children with obstructive sleep apnea (OSA).

Methods: Objective CPAP compliance and efficacy were evaluated in consecutive children enrolled in an outpatient CPAP program when they fulfilled the following criteria: persistent OSA, age >6 months, stable condition, family living in the Parisian area and agreeing with a regular follow-up. Read More

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http://dx.doi.org/10.1002/ppul.24138DOI Listing
October 2018
22 Reads

Noninvasive prenatal test for FGFR3-related skeletal dysplasia based on next-generation sequencing and plasma cell-free DNA: Test performance analysis and feasibility exploration.

Prenat Diagn 2018 10 19;38(11):821-828. Epub 2018 Aug 19.

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

Objective: To explore the feasibility and accuracy of a noninvasive prenatal test for fibroblast growth factor receptor 3 (FGFR3)-related skeletal dysplasia based on next-generation sequencing (NGS) of plasma cell-free DNA.

Method: Fragmented genome DNA (gDNA) of fetuses with achondroplasia (ACH) and thanatophoric dysplasia type I (TD I) was mixed with postdelivery maternal plasma cell-free DNA to generate spiked samples of different modeled fetal fractions. Multiplex polymerase chain reaction was used to amplify the 19 FGFR3 loci, and the amplification products were then sequenced by NGS to detect the fetal mutant alleles. Read More

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http://dx.doi.org/10.1002/pd.5334DOI Listing
October 2018
9 Reads
2.510 Impact Factor

Subcranial Le Fort III Advancement with Equine-Derived Bone Grafts to Correct Syndromic Midfacial Hypoplasia: A Case Report.

J Maxillofac Oral Surg 2018 Sep 28;17(3):296-300. Epub 2017 Nov 28.

1Maxillo-Facial Surgery Department, E.O. Ospedali Galliera, Via Mura delle Cappuccine 14, 16128 Genoa, Italy.

Patients with hypoplasia of the midface normally present a flattening of their facial profile due to insufficient development of the nose and maxilla. Treatment aimed to restore function and an aesthetic appearance calls for a Le Fort III osteotomy and the advancement of the midfacial segment either through distraction or interposition of autogenous bone blocks. However, drawbacks in using autogenous bone suggest that use of alternative graft material may be advisable. Read More

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http://dx.doi.org/10.1007/s12663-017-1058-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028328PMC
September 2018
2 Reads

Natural history of 39 patients with Achondroplasia.

Clinics (Sao Paulo) 2018 07 2;73:e324. Epub 2018 Jul 2.

Unidade de Genetica, Instituto da Crianca (ICR), Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, BR.

Objectives: To characterize the natural history of 39 achondroplastic patients diagnosed by clinical, radiological and molecular assessments.

Methods: Observational and retrospective study of 39 patients who were attended at a public tertiary level hospital between 1995 and 2016.

Results: Diagnosis was made prenatally in 11 patients, at birth in 9 patients and within the first year of life in 13 patients. Read More

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http://dx.doi.org/10.6061/clinics/2018/e324DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6005962PMC
July 2018
28 Reads

Case 1: Microcephaly, Skeletal Dysplasia, and Immunodeficiency in a Newborn.

Pediatr Rev 2018 Jul;39(7):359-362

Department of Medical Genetics and Genomic Medicine, Saint Peter's University Hospital, New Brunswick, NJ.

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http://dx.doi.org/10.1542/pir.2017-0101DOI Listing
July 2018
6 Reads

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
8 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
10 Reads

[Urrets-Zavalia syndrome post keratoplasty, keratoconus and achondroplasia: Is there a link?]

J Fr Ophtalmol 2018 Jun 13;41(6):e287-e289. Epub 2018 Jun 13.

Centre hospitalier Hrazem, CHU Hassan II-Fès, Atlas, avenue Hassan-II, BP1835 Fès, Morocco.

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http://dx.doi.org/10.1016/j.jfo.2017.08.027DOI Listing
June 2018
7 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
18 Reads

Acute type A aortic dissection repair in an octogenarian with achondroplasia: a case report.

Surg Case Rep 2018 Jun 8;4(1):53. Epub 2018 Jun 8.

Department of Cardiovascular Surgery, Kumamoto Rosai Hospital, 1670 Takehara, Yatsushiro, Kumamoto, 866-8533, Japan.

Background: Achondroplasia is an inherited disorder and the most common type of short-limbed dwarfism in human beings, affecting more than 250,000 individuals worldwide. To the best of our knowledge, no study has reported a correlation between achondroplasia and aortic dissection. Here, we report a rare case of acute type A aortic dissection repair in a patient with achondroplasia. Read More

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http://dx.doi.org/10.1186/s40792-018-0461-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993690PMC
June 2018
1 Read

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
45 Reads