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Ablepharon-macrostomia syndrome: first report of familial occurrence.

作者信息

Ferraz V E, Melo D G, Hansing S E, Cruz A A, Pina-Neto J M

机构信息

Department of Genetics, Faculty of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, SP, Brazil.

出版信息

Am J Med Genet. 2000 Oct 2;94(4):281-3. doi: 10.1002/1096-8628(20001002)94:4<281::aid-ajmg3>3.0.co;2-s.

DOI:10.1002/1096-8628(20001002)94:4<281::aid-ajmg3>3.0.co;2-s
PMID:11038439
Abstract

Ablepharon-macrostomia syndrome (AMS) is a rare condition comprising severe deficiency of the anterior lamella of both eyelids, abnormal ears, macrostomia, anomalous genitalia, redundant skin, and absence of lanugo. There is no agreement about cause; some authors suggest autosomal recessive inheritance. We describe familial occurrence of AMS in a girl, sister of a previously reported patient. The father has facial anomalies that suggest autosomal dominant inheritance. Am. J. Med. Genet. 94:281-283, 2000.

摘要

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