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Two Cases of Congenital Atrichia Associated with the Gastrointestinal Anomaly in Siblings

Journal of the Korean Pediatric Society 1996;39(9):1315-1320.
Published online September 15, 1996.
Two Cases of Congenital Atrichia Associated with the Gastrointestinal Anomaly in Siblings
Jin Kyung Jung, Sang Ho Baik, Sa Young Kim, Eui Tak Oh, Hong Ja Kang, Kil Seo Kim
Department of Pediatrics, Dae Dong Hospital, Pusan, Korea
형제에서 발생한 장관기형을 동반한 선천성 무모증 2례
정진경, 백상호, 김사영, 오의탁, 강홍자, 김길서
대동병원 소아과
Abstract
Congenital atrichia is an anomaly characterized by congenital absence of hair in varying degrees as well as the hypopigmentation & poor development of the abnormal residual hair on the scalp, eyebrows, eyelashes & body. Two cases of congenital atrichia in siblings were reviewed. The first case was associated with congenital megacolon and skin biopsy of scalp (esp. parietal region) was non-specific. The second case was associated with bilateral inguinal hernia. Congenital atrichia is inherited by autosomal dominant or recessive. Acording to the limited pedigree data, our cases were X-linked recessive inheritance We report these cases with a review of related literatures.
Key Words: Congenital atrichia, Congenital megacolon, Inguinal hernia


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