Ablepharon‐Macrostomia syndrome: First report of familial occurrence |
| |
| Authors: | Débora G. Melo Susanne E. Hansing Antonio A.V. Cruz João M. Pina‐Neto |
| |
| Affiliation: | 1. Department of Genetics, Faculty of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, SP, Brazil;2. Department of Ophthalmology, Faculty of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, SP, Brazil |
| |
| 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. © 2000 Wiley‐Liss, Inc. |
| |
| Keywords: | ablepharon‐macrostomia syndrome partial lid agenesis autosomal dominant inheritance familial occurrence |
|
|
