✦ LIBER ✦

Camptodactyly, myopia, and fibrosis of the medial rectus of the eye in two sibs born to consanguineous parents: Autosomal recessive entity?

✍ Scribed by Kilic, ?lknur; Kilic, B. Alper; Ergin, Hacer; Ayg�n, Meral G�nay; Aksit, M. Arif

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 18 KB
Volume: 77
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980428)77:1<28::aid-ajmg7>3.0.co;2-h

No coin nor oath required. For personal study only.

✦ Synopsis

Unaffected but consanguineous parents suggest autosomal recessive inheritance of a previously apparently undescribed syndrome of camptodactyly, fibrosis of the medial rectus muscle of the eye, severe myopia, facial anomalies, joint contractures, and mild scoliosis in a 13-year-old Turkish girl and her 11-year-old brother. The girl also had ptosis. Am.