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Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia

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DOI

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Vis graf over relationer

Autosomal recessive omodysplasia (GPC6-related) is a rare short-limb skeletal dysplasia caused by biallelic mutations in the GPC6 gene. Affected individuals manifest with rhizomelic short stature, decreased mobility of elbow and knee joints as well as craniofacial anomalies. Both upper and lower limbs are severely affected. These manifestations contrast with normal height and limb shortening restricted to the arms in autosomal dominant omodysplasia (FZD2-related). Here, we report 2 affected brothers of Pakistani descent from Denmark with GPC6-related omodysplasia, aiming to highlight the clinical and radiological findings. A homozygous deletion of exon 6 in the GPC6 gene was detected. The pathognomonic radiological findings were distally tapered humeri and femora as well as severe proximal radioulnar diastasis. On close observations, we identified a recurrent and not previously described type of abnormal patterning in all long bones.

OriginalsprogEngelsk
TidsskriftMolecular Syndromology
Vol/bind11
Udgave nummer2
Sider (fra-til)83-89
Antal sider7
ISSN1661-8769
DOI
StatusUdgivet - jun. 2020

Bibliografisk note

Copyright © 2020 by S. Karger AG, Basel.

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