A new autosomal dominant craniofacial deafness syndrome.
A Jewish family is reported in which the proband and her father had congenital hearing loss and unusual facies consisting of facial asymmetry, temporal alopecia with frontal bossing, a broad nasal root and small nasal alae. In addition, both were born with a short frenulum of the tongue. We believe these findings represent a new autosomal dominant deafness syndrome with distinct craniofacial features.
Department of Medical Genetics, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
S
S
Kassutto
Z
Z
Kassutto
T
T
Ben-Ami
R M
RM
Goodman
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000505:Alopecia / Q000235:genetics*; D002675:Child, Preschool; D005146:Facial Asymmetry / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D009666:Nose / Q000002:abnormalities; D013577:Syndrome; D014059:Tongue / Q000002:abnormalities