Ophthalmo-acromelic syndrome in an infant

ÜREL DEMİR, GİZEM; Taskiran, ZİHNİ; AKGÜN DOĞAN, ÖZLEM; Simek-Kiper, Pelin; ÜTİNE, GÜLEN

doi:10.1016/j.ejmg.2019.05.003

Ophthalmo-acromelic syndrome in an infant

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

EUROPEAN JOURNAL OF MEDICAL GENETICS, cilt.62, sa.7, 2019 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 62 Sayı: 7
Basım Tarihi: 2019
Doi Numarası: 10.1016/j.ejmg.2019.05.003
Dergi Adı: EUROPEAN JOURNAL OF MEDICAL GENETICS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Hacettepe Üniversitesi Adresli: Evet

Özet

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.