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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia

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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.

Original languageEnglish
JournalMolecular Syndromology
Volume11
Issue number2
Pages (from-to)83-89
Number of pages7
ISSN1661-8769
DOIs
Publication statusPublished - Jun 2020

ID: 60368300