Ophthalmo-acromelic syndrome in an infant

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ÜREL DEMİR G., Taskiran E. Z., AKGÜN DOĞAN Ö., Simek-Kiper P. O., ÜTİNE G. E.

EUROPEAN JOURNAL OF MEDICAL GENETICS, vol.62, no.7, 2019 (SCI-Expanded, Scopus)

• Publication Type: Article / Article
• Volume: 62 Issue: 7
• Publication Date: 2019
• Doi Number: 10.1016/j.ejmg.2019.05.003
• Journal Name: EUROPEAN JOURNAL OF MEDICAL GENETICS
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Hacettepe University Affiliated: Yes

Abstract

Ophthalmo-acromelic syndrome is a rare autosomal recessive disorder characterized by ocular and skeletal abnormalities. Ocular findings present as a wide spectrum, ranging from mild microphthalmia to true anophthalmia. Short 5th finger, synostosis of 4th and 5th metacarpals, and oligodactyly in feet are frequent limb malformations. Homozygous variants in the SMOC1 gene (SPARC-related modular calcium-binding protein 1 gene) were identified as causative for the syndrome. A 9-month-old female patient is presented herein, who was diagnosed with ophthalmo-acromelic syndrome and had a homozygous nonsense mutation (p.Arg75Ter) in SMOC1, along with a review of the literature.