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Article

Ehlers-Danlos/myopathy overlap syndrome caused by a large de novo deletion in COL12A1.

American journal of medical genetics. Part A - 1 May 2022

Coppens Sandra, Desmyter Laurence, Koch Manuel, Özcelik Semra, O'Heir Emily, Van Bogaert Patrick, Vilain Catheline, Christiaens Florence

Abstract excerpt

Autosomal dominant and recessive mutations in COL12A1 cause the Ehlers-Danlos/myopathy overlap syndrome. Here, we describe a boy with fetal hypokinesia, severe neonatal weakness, striking hyperlaxity, high arched palate, retrognathia, club feet, and pectus excavatum. His motor development was initially delayed but muscle strength improved with time while hyperlaxity remained very severe causing recurrent joint...

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PMID: 35019233
DOI: 10.1002/ajmg.a.62653

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