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 |
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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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