Craniosynostosis, telecanthus, scalp hair abnormalities, and sensorineural deafness in two sibs.
A sister and a brother with anomalous skull configuration, facial abnormalities, abnormal scalp hair growth, sensorineural hearing loss and, in the boy, proven craniosynostosis, severe mental retardation, and autism were reported in 1986 in an abstract by Hersh et al. We reexamined this family and here review the literature focusing on the major clinical findings, and suggest that their clinical manifestations may represent a previously unreported syndrome.
Mégarbané
André
A
Unité de Génétique Médicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon. megarban@dm.net.lb
Hersh
Joseph H
JH
Chouery
Eliane
E
Fabre
Michel
M
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D003398:Craniosynostoses / Q000473:pathology*; D005143:Eyelids / Q000002:abnormalities*; D005192:Family Health; D005260:Female; D006197:Hair / Q000002:abnormalities*; D006319:Hearing Loss, Sensorineural / Q000473:pathology*; D006801:Humans; D008297:Male