Journal of the Korean Pediatric Society 1990;33(2):274-277.
Published online February 28, 1990.
A Case of Cryptophthalmos Syndrome.
Ho Seek Ahn, Gyu Ha Lee, Eui Bon Koo, Sung Won Kim, Kil Hyen Kim
Department of Pediatrics, St. Benedict Hospital, Pusan, Korea
Cryptophthalmos 증후군 1례
안호식, 이규하, 구의본, 김성원, 김길현
성분도병원 소아과
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.
Key Words: Cryptophthalmos syndrome




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