Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs.
A brother and sister born to normal, nonconsanguineous parents have a syndrome of profound sensorineural hearing deficiency, enamel hypoplasia limited to the permanent dentition, and nail abnormalities. This appears to be a previously unreported inherited syndrome.
Heimler
A
A
Division of Human Genetics, Schneider Children's Hospital of Long Island Jewish Medical Center, New Hyde Park, NY 11042.
Fox
J E
JE
Hershey
J E
JE
Crespi
P
P
D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D003744:Dental Enamel Hypoplasia / Q000235:genetics*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D009264:Nails, Malformed; D013577:Syndrome