Ablepharon-macrostomia syndrome: first report of familial occurrence.

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.

• Authors: V E Ferraz, D G Melo, S E Hansing, A A Cruz, J M Pina-Neto
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 94 Issue 4 Pg. 281-3 (Oct 02 2000) ISSN: 0148-7299 [Print] United States
• PMID: 11038439 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2000 Wiley-Liss, Inc.

Topics

• Abnormalities, Multiple (genetics)
• Adult
• Child, Preschool
• Eyelids (abnormalities, growth & development)
• Female
• Genes, Dominant
• Genitalia, Female (abnormalities, growth & development)
• Growth Disorders (diagnosis, genetics)
• Hair (abnormalities, growth & development)
• Humans
• Infant
• Infant, Newborn
• Macrostomia (genetics)
• Male
• Nuclear Family
• Pregnancy
• Syndrome