All issues > Volume 33(2); 1990

Original Article

J Korean Pediatr Soc. 1990;33(2):274-277. Published online February 28, 1990.

A Case of Cryptophthalmos Syndrome.

Ho Seek Ahn¹, Gyu Ha Lee¹, Eui Bon Koo¹, Sung Won Kim¹, Kil Hyen Kim¹

¹Department of Pediatrics, St. Benedict Hospital, Pusan, Korea

Abstract

Cryptophthalmos Syndrome is a rare congenital disease charaterized by unilateral or bilateral absence of the palphbral fissure, other dyscephaly, partial cutaneous syndactyly and malformation of the genitalia. It is presumably a nonuniform syndrome and its etiology is not certain. But, a type transmitted by autosomal recessive inheritance may be considered certain. We experienced a characteristic case of cryptophthalmos syndrome in newborn female infant who died soon after birth.

Keywords :Cryptophthalmos syndrome