875 results match your criteria Imaging in Achondroplasia


Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States.

Genet Med 2021 May 18. Epub 2021 May 18.

Nemours/A.I. duPont Hospital for Children, Wilmington, DE, USA.

Purpose: Achondroplasia is the most common short stature skeletal dysplasia (1:20,000-30,000), but the risk of adverse health outcomes from cardiovascular diseases, pain, poor function, excess weight, and sleep apnea is unclear. A multicenter retrospective natural history study was conducted to understand medical and surgical practices in achondroplasia.

Methods: Data from patients with achondroplasia evaluated by clinical geneticists at Johns Hopkins University, A. Read More

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High-resolution computed tomography temporal bone imaging in achondroplasia.

Proc (Bayl Univ Med Cent) 2021 Jan 28;34(3):419-421. Epub 2021 Jan 28.

Department of Radiology, Yale New Haven Health Bridgeport Hospital, Bridgeport, Connecticut.

Achondroplasia is a genetic condition caused by disordered endochondral ossification, which leads to rhizomelic dwarfism and midfacial hypoplasia. Additionally, several morphologic changes in the temporal bone are thought to at least partially contribute to hearing loss in these patients. We present a patient with achondroplasia who presented with hearing loss and was referred to radiology for temporal bone imaging. Read More

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January 2021

Pictorial review: imaging of the spinal manifestations of achondroplasia.

Br J Radiol 2021 Apr 29:20210223. Epub 2021 Apr 29.

Royal National Orthopaedic Hospital NHS Trust, London, UK.

Achondroplasia is the commonest hereditary skeletal dysplasia exhibiting dwarfism with characteristic rhizomelic (proximal) shortening of the limbs. It is predominantly linked with an autosomal dominant inheritance, but sporadic mutations can occur which are associated with advanced maternal age. Approximately 1 in every 25 000-30 000 live births are affected, and the overall life expectancy is marginally reduced by ~10 years. Read More

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Achondroplasia from the viewpoint of orthodontics

Orv Hetil 2021 04 10;162(17):683-688. Epub 2021 Apr 10.

3 Heim Pál Országos Gyermekgyógyászati Intézet, Alvásdiagnosztikai és Terápiás Labor, Budapest.

Összefoglaló. Az achondroplasia kialakulásáért az FGFR3-gén mutációja tehető felelőssé, mely a porc növekedési lemezében található chondrocyták érésében okoz zavart. Az esetbemutatásban szereplő lánygyermeknél a születést követő első hónapban a klinikai, laboratóriumi és röntgenvizsgálatok alapján achondroplasia igazolódott. Read More

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Endoscopic third ventriculostomy for hydrocephalus in a patient with achondroplasia: a case report and literature review.

Childs Nerv Syst 2021 Mar 29. Epub 2021 Mar 29.

Department of Neurosurgery, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu, Gifu, 501-1194, Japan.

Hydrocephalus, a complication of achondroplasia, requires treatment when it is symptomatic. Hydrocephalus associated with achondroplasia is often treated with ventriculoperitoneal shunting, and endoscopic third ventriculostomy (ETV) is rarely performed in these patients. Here, we report the case of an 18-month-old boy with achondroplasia and progressive hydrocephalus who underwent ETV. Read More

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Spine radiograph in dysplasias: A pictorial essay.

Indian J Radiol Imaging 2020 Oct-Dec;30(4):436-447. Epub 2021 Jan 13.

Department of Radiodiagnosis, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.

Spine radiograph is an essential component of a skeletal survey. It provides important diagnostic clues to various types of skeletal dysplasia. In some conditions, a spine radiograph alone may be diagnostic and characteristic; but mostly, it yields more value as a part of the complete skeletal survey. Read More

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January 2021

Predictors of cervical myelopathy and hydrocephalus in young children with achondroplasia.

Orphanet J Rare Dis 2021 02 12;16(1):81. Epub 2021 Feb 12.

Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, 03080, Seoul, Republic of Korea.

Background: Cervical myelopathy and hydrocephalus occasionally occur in young children with achondroplasia. However, these conditions are not evaluated in a timely manner in many cases. The current study presents significant predictors for cervical myelopathy and hydrocephalus in young children with achondroplasia. Read More

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February 2021

Imaging of pediatric bone and growth disorders: Of diagnostic workhorses and new horizons.

Wien Med Wochenschr 2021 Apr 11;171(5-6):102-110. Epub 2021 Feb 11.

Department of Biomedical Imaging and Image-Guided Therapy, Medical University of Vienna, Vienna, Austria.

Children and adolescents with bone and growth disorders require interdisciplinary care from various specialists including pediatric radiologists with a focus on musculoskeletal disorders. This article covers routine topics, differential diagnoses, and selected research imaging in children with osteogenesis imperfecta (OI), X‑linked hypophosphatemic rickets (XLH), achondroplasia, and other bone and growth disorders from the standpoint of a tertiary referral center. Read More

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Thanatophoric dysplasia: a case report.

Pan Afr Med J 2020 5;37:220. Epub 2020 Nov 5.

Alpha Clinic and Ultrasound Unit, Sagamu, Ogun state, Nigeria.

A case of thanatophoric dysplasia with sudden death at term is hereby presented. Thanatophoric dysplasia is an uncommon, lethal skeletal dysplasia which is associated with mutation in the extracellular region of fibroblast growth factor receptor 3 (FGFR3). It is an autosommal dominant condition that has sporadic occurrence and early ultrasound scan has not been of great benefit in its detection. Read More

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Achondroplasia: A form of disproportionate dwarfism - A case report.

Indian J Dent Res 2020 Sep-Oct;31(5):794-798

Department of Oral Medicine and Radiology, Saveetha Dental College, Chennai, Tamil Nadu, India.

Achondroplasia is a genetic disorder that is due to mutation of fibroblast growth factor receptor (FGFR3) gene and it results in dwarfism. It is inherited as an autosomal dominant trait. The classical clinical features seen are disproportionate dwarfism, rhizomelic shortening (proximal limbs), short fingers and toes with trident hands, large head with prominent forehead (frontal bossing), small mid face with flattened nasal bridge, spinal kyphosis or lordosis, varus (bowleg), and valgus (knock knee) deformities. Read More

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January 2021

Evaluation of FGFR inhibitor ASP5878 as a drug candidate for achondroplasia.

Sci Rep 2020 12 1;10(1):20915. Epub 2020 Dec 1.

Cell Induction and Regulation Field, Department of Clinical Application, Center for iPS Cell Research and Application, Kyoto University, 53 Kawahara-cho, Shogoin, Sakyo-ku, Kyoto, 606-8507, Japan.

Achondroplasia is caused by gain-of-function mutations in FGFR3 gene and leads to short-limb dwarfism. A stabilized analogue of C-type natriuretic peptide (CNP) is known to elongate bone by interacting with FGFR3 signals and thus is a promising drug candidate. However, it needs daily administration by percutaneous injection. Read More

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December 2020

Cardiovascular risk factors and body composition in adults with achondroplasia.

Genet Med 2021 04 18;23(4):732-739. Epub 2020 Nov 18.

Department of Preventive Cardiology, Oslo University Hospital, Oslo, Norway.

Purpose: An increased cardiovascular mortality has been reported in achondroplasia. This population-based, case-control study investigated cardiovascular risk factors and body composition in Norwegian adults with achondroplasia.

Methods: We conducted anthropometric, clinical, and laboratory assessments in 49 participants with achondroplasia, of whom 40 completed magnetic resonance imaging (MRI) for body composition analysis. Read More

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Letter to the Editor Regarding "Ossification of the Ligamentum Flavum at the Thoracic and Lumbar Region in an Achondroplastic Patient".

World Neurosurg 2020 11;143:585-586

Department of Neurosurgery, Avicenne Military Hospital in Marrakech, Mohammed V University in Rabat, Rabat, Morocco.

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November 2020

Can Chiari Osteotomy Favorably Influence Long-term Hip Degradation in Multiple Epiphyseal Dysplasia and Pseudoachondroplasia?

J Pediatr Orthop 2021 Feb;41(2):e135-e140

Pediatric Orthopedic Department, Necker Enfants Malades Hospital, Assistance Publique - Hôpitaux de Paris, Paris Descartes University, Paris, France.

Background: Multiple epiphyseal dysplasia (MED) and pseudoachondroplasia (PSACH) are congenital skeletal disorders characterized by irregular epiphyses, mild or severe short stature and early-onset osteoarthritis which frequently affect the hips. The current study evaluates the long-term results of the Chiari osteotomy in MED and PSACH patients.

Methods: Twenty patients (14 MED and 6 PSACH) were retrospectively included. Read More

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February 2021

Neuroimaging and calvarial findings in achondroplasia.

Pediatr Radiol 2020 11 2;50(12):1669-1679. Epub 2020 Nov 2.

Department of Radiology, Division of Pediatric Radiology, Dokuz Eylul University School of Medicine, 35340, Balcova, Izmir, Turkey.

Achondroplasia is the most common hereditary form of dwarfism and is characterized by short stature, macrocephaly and various skeletal abnormalities. The phenotypic changes are mainly related to the inhibition of endochondral bone growth. Besides the several commonly known physical features that are characteristic of this syndrome, achondroplasia can affect the central nervous system. Read More

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November 2020

Earlier detection of hypochondroplasia: A large single-center UK case series and systematic review.

Am J Med Genet A 2021 01 14;185(1):73-82. Epub 2020 Oct 14.

Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.

Hypochondroplasia (HCH) is a rare autosomal dominant skeletal dysplasia condition caused by FGFR3 mutations leading to disproportionate short stature. Classically HCH presents in toddlers or school-age children, as limb-to-trunk disproportion and is often mild and easily overlooked during infancy. We report experiences from a single-center UK HCH-cohort of 31 patients, the rate of antenatal HCH detection in our cohort (13/31, 41. Read More

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January 2021

Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene.

Prague Med Rep 2020 ;121(3):153-162

Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.

Dominantly inherited mutations in COMP gene encoding cartilage oligomeric matrix protein may cause two dwarfing skeletal dysplasias, milder multiple epiphyseal dysplasia (MED) and more severe pseudoachondroplasia (PSACH). We studied the phenotype and X-rays of 11 patients from 5 unrelated families with different COMP mutations. Whole exome and/or Sangers sequencing were used for molecular analyses. Read More

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December 2020

Centrally mediated obstructive apnoea and restenosis of the foramen magnum in an infant with achondroplasia.

Br J Neurosurg 2020 Sep 12:1-4. Epub 2020 Sep 12.

Guy's and Saint Thomas' NHS Foundation Trust, London, United Kingdom of Great Britain and Northern Ireland.

Achondroplasia is associated with foramen magnum stenosis. We report a male infant with achondroplasia and centrally mediated obstructive apnoea who underwent two foramen magnum decompression due to bone regrowth. He presented at six weeks of age with breath holding and apnoeic episodes associated with significant desaturation, requiring non-invasive ventilation. Read More

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September 2020

Achondroplasia Foramen Magnum Score: screening infants for stenosis.

Arch Dis Child 2021 02 3;106(2):180-184. Epub 2020 Sep 3.

Department of Paediatric Neurosurgery, Great Ormond Street Hospital, London, UK.

Background: Achondroplasia is associated with foramen magnum stenosis (FMS) and significant risk of morbidity and sudden death in infants. A sensitive and reliable method of detecting infants who require decompressive surgery is required. This study aims to describe the incidence and severity of FMS in an unselected, sequential series of infants using a novel MRI score and retrospectively correlate severity with clinical examination and cardiorespiratory sleep (CRS) studies. Read More

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February 2021

Natural history of achondroplasia: A retrospective review of longitudinal clinical data.

Am J Med Genet A 2020 11 31;182(11):2540-2551. Epub 2020 Aug 31.

Division of Research, Kaiser Permanente, Oakland, California, USA.

There are limited data on the longitudinal frequency and severity of the symptoms and complications of achondroplasia. We undertook a retrospective electronic chart review of 114 patients to develop a more thorough understanding of the lifetime impact of achondroplasia. Craniocervical stenosis (involving the foramen magnum with or without cervical vertebrae C1 and/or C2) was noted in nearly 50% of patients with craniovertebral junction imaging; however, corrective decompression surgery was only needed in 6% of patients. Read More

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November 2020

A case of successful coronary angioplasty in an achondroplasia patient with total occlusion of an anomalous right coronary artery (case report).

BMC Cardiovasc Disord 2020 07 10;20(1):329. Epub 2020 Jul 10.

Resident, Wad Medani Heart Centre, Wad Medani, Sudan.

Background: Coronary interventions in patients of achondroplasia have been reported rarely in the medical literature. Due to short stature and kyphoscoliosis, endovascular access (Cannulation) of the coronary arteries is usually extremely difficult in such patients.

Case Presentation: A 33 years old patient, a known case of achondroplasia, presented with epigastric pain for 3 h duration to a university hospital, Sudan. Read More

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Total knee arthroplasty in achondroplasia without deformity correction: A case report with 11 years' follow-up.

Knee 2020 Jun 20;27(3):740-746. Epub 2020 May 20.

Division of Orthopaedics and Trauma Surgery, Geneva University Hospitals, University of Geneva, Faculty of Medicine, Geneva, Switzerland. Electronic address:

Knee osteoarthritis in patients with achondroplasia is rare. Bowleg deformity is typical but corrective surgery is limited. Thus, primary total knee arthroplasty (TKA) might be challenging due to the particular anatomy. Read More

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Improvement in ventriculomegaly following cervicomedullary decompressive surgery in children with achondroplasia and foramen magnum stenosis.

Am J Med Genet A 2020 08 11;182(8):1896-1905. Epub 2020 Jun 11.

Maxine Dunitz Neurosugical Institute-Department of Neurological Surgery, Cedars-Sinai Medial Center, Los Angeles, California, USA.

The role of cervicomedullary decompression (CMD) in the care of hydrocephalic achondroplastic children who present with simultaneous foramen magnum stenosis is not well understood. We sought to determine the percentage of symptomatic achondroplastic children with foramen magnum stenosis who had stabilization or improvement in ventriculomegaly following CMD. The authors retrospectively reviewed the records of pediatric patients at Cedars-Sinai Medical Center with achondroplasia and signs of progressive ventriculomegaly who underwent CMD for symptomatic foramen magnum stenosis between the years 2000 and 2018. Read More

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How often do we incidentally find a fetal abnormality at the routine third-trimester growth scan? A population-based study.

Am J Obstet Gynecol 2020 12 3;223(6):919.e1-919.e13. Epub 2020 Jun 3.

Nuffield Department of Women's and Reproductive Health, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom. Electronic address:

Background: Third-trimester scans are increasingly used to try to prevent adverse outcomes associated with abnormalities of fetal growth. Unexpected fetal malformations detected at third-trimester growth scans are rarely reported.

Objective: To determine the incidence and type of fetal malformations detected in women attending a routine third-trimester growth scan. Read More

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December 2020

High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study.

Orphanet J Rare Dis 2020 05 25;15(1):123. Epub 2020 May 25.

Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.

Background: Symptomatic spinal stenosis (SSS) is a well-known medical complication in achondroplasia. The reported prevalence of SSS is 10 to 30%, an estimate based on small studies or selected populations. No population-based studies exist currently. Read More

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Thanatophoric Skeletal Dysplasia: A Case Report.

JNMA J Nepal Med Assoc 2020 Mar;58(223):185-187

Department of Pediatrics, Patan Academy of Health Sciences, School of Medicine Patan Hospital, Lalitpur, Nepal.

Thanatophoric skeletal dysplasiais the most lethal, rare, sporadic birth defect due to de novo mutation in the fibroblast growth factor receptor-3. Clinically this is characterized by shortening of the limbs (micromelia), small conical thorax, flat vertebral bodies and macrocephaly at birth. We encountered a similar case with ultrasonographic findings suggestive of Thanatophoric Skeletal Dysplasia which resulted in the death of the baby within an hour of birth. Read More

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Lumbar spinal stenosis and disc alterations affect the upper lumbar spine in adults with achondroplasia.

Sci Rep 2020 03 13;10(1):4699. Epub 2020 Mar 13.

Université de Paris, BIOSCAR Inserm U1132 and Department of Rheumatology and Reference Center for Constitutional Bone Diseases, AP-HP Hospital Lariboisière, F-75010, Paris, France.

In achondroplasia, lumbar spinal stenosis arises from congenital dysplasia and acquired degenerative changes. We here aimed to describe the changes of the lumbar spinal canal and intervertebral disc in adults. We included 18 adults (age ≥ 18 years) with achondroplasia and lumbar spinal stenosis. Read More

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The changing world of skeletal dysplasia.

Lancet Child Adolesc Health 2020 04 28;4(4):253-254. Epub 2020 Feb 28.

Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK. Electronic address:

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Trevor's disease of the distal radioulnar joint in two children with achondroplasia.

Am J Med Genet A 2020 05 29;182(5):1249-1254. Epub 2020 Feb 29.

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

Two children with achondroplasia who developed an abnormal bony outgrowth at the distal radioulnar joint (DRUJ), indistinguishable from an osteochondroma on histology, but the radiographic appearance, location, and asymmetry suggested the rare diagnosis of dysplasia epiphysealis hemimelica (DEH or "Trevor's disease"). One child experienced symptomatic relief with surgical excision and one was observed clinically due to lack of significant symptoms. These are the first presented cases of DEH in achondroplasia, both affecting the DRUJ. Read More

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Macrocerebellum in Achondroplasia: A Further CNS Manifestation of Mutations?

AJNR Am J Neuroradiol 2020 02 19;41(2):338-342. Epub 2019 Dec 19.

From the Departments of Medical Imaging (H.M.P., A.M.F., S.K.).

Achondroplasia is the result of a mutation in the gene (). Appearances suggestive of macrocerebellum have not been described in this patient group. We retrospectively reviewed MR imaging studies of the brain in 23 children with achondroplasia. Read More

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February 2020