Ablepharon-macrostomia syndrome: first report of familial occurrence.
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.
Ferraz
V E
VE
Department of Genetics, Faculty of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, SP, Brazil.
Melo
D G
DG
Hansing
S E
SE
Cruz
A A
AA
Pina-Neto
J M
JM
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D005143:Eyelids / Q000002:abnormalities* / Q000254:growth & development; D005260:Female; D005799:Genes, Dominant; D005836:Genitalia, Female / Q000002:abnormalities / Q000254:growth & development; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics*; D006197:Hair / Q000002:abnormalities / Q000254:growth & development; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008265:Macrostomia / Q000235:genetics*; D008297:Male; D009679:Nuclear Family; D011247:Pregnancy; D013577:Syndrome