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Extensive form of aplasia cutis congenita: a new syndrome?

Authors
Park, MS; Hahn, SH; Hong, CH; Kim, JS; Kim, HS
Citation
Journal of medical genetics, 35(7):609-611, 1998
Journal Title
Journal of medical genetics
ISSN
0022-25931468-6244
Abstract
Aplasia cutis congenita is a heterogeneous group of conditions usually involving the scalp as well as any other part of the body and is associated with a number of other congenital anomalies. We report on a newborn male with almost complete absence of skin and subcutaneous tissue in association with choanal atresia, syndactyly, imperforate anus, pulmonary hypoplasia, and other anomalies. To our knowledge, this condition, not only in the extent of the lesion but the associated anomalies, has not been reported previously.
MeSH terms
Abnormalities, Multiple/*genetics/pathologyAnus, Imperforate/geneticsChoanal Atresia/geneticsEctodermal Dysplasia/*genetics/pathologyHumansInfant, NewbornLung/abnormalitiesMaleSkin/pathologySyndactyly/geneticsSyndrome
PMID
9678709
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Obstetrics & Gynecology
Journal Papers > School of Medicine / Graduate School of Medicine > Pediatrics & Adolescent Medicine
AJOU Authors
박, 문성한, 시훈홍, 창호김, 행수
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