Blepharolabioanal syndrome.
A previously unreported syndrome of congenital craniofacial and anorectal anomalies affecting a woman and her two daughters is described. Features include bilateral cleft lip, cleft palate, bilateral upper and lower lid lag, and imperforate anus. The findings are consistent with an autosomal dominant pattern of inheritance. There were no identifiable intrauterine fetal insults. A detailed description of these anomalies, the subsequent surgical corrections, and a discussion of previously unreported syndromes with isolated features are the subject of this report.
Guyuron
B
B
Department of Surgery, Case Western Reserve University, Cleveland, Ohio, USA.
Behmand
R A
RA
Michelow
B
B
D000015:Abnormalities, Multiple / Q000235:genetics / Q000601:surgery; D001006:Anus, Imperforate / Q000601:surgery; D002971:Cleft Lip / Q000601:surgery; D002972:Cleft Palate / Q000601:surgery; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000601:surgery*; D005143:Eyelids / Q000002:abnormalities / Q000601:surgery; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome