Newly recognized ectrodactyly/deafness syndrome.
A 7-year-old non-Ashkenazi Jewish girl is described having asymmetrical ectrodactyly (split hand and foot deformity), short stature, mental retardation, sensorineural deafness, and abnormal facies. Because this constellation of findings has not been reported previously, the authors believe that this represents a new congenital malformation syndrome, most probably of genetic etiology.
Raas-Rothschild
A
A
Institute of Medical Genetics, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
Aviram
A
A
Ben-Ami
T
T
Berger
I
I
Katznelson
M B
MB
Goodman
R M
RM
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D003937:Diagnosis, Differential; D004476:Ectodermal Dysplasia / Q000175:diagnosis; D005145:Face / Q000002:abnormalities; D005260:Female; D005532:Foot Deformities, Congenital / Q000175:diagnosis* / Q000000981:diagnostic imaging; D006228:Hand Deformities, Congenital / Q000175:diagnosis* / Q000000981:diagnostic imaging; D006319:Hearing Loss, Sensorineural / Q000151:congenital*; D006801:Humans; D010375:Pedigree; D011859:Radiography; D013577:Syndrome