Cryptophthalmos syndrome [Fraser syndrome]: report of a sporadic case

ABSTRACT

The syndrome of cryptophthalmos ["hidden eye"] in association with multiple congenital anomalies, also known as Fraser syndrome, is an uncommon condition, based on a genetic disorder. We report the findings in all a 5-year-old boy from Oman, in whom the main clinical features were unilateral cryptophthalmos and cutaneous syndactyly in four extremities. In addition, there was a mild degree of sclero-cornea in the fellow eye with reduction in vision, and the child exhibited brachydactyly, abnormalities of the nose, the external ear, the nipples and the umbilicus; also, there was a micropenis and an undescended right testis. The boy appeared to be of normal intelligence. Computed tomography of the head showed a normal right eye, while the appearance of the left eye was consistent with the diagnosis of congenital cystic eye. Absence of the right kidney was diagnosed on abdominal ultrasound examination