DOOR syndrome: additional case and literature review.
We report on a patient with sensorineural deafness, onycho- and osteodystrophy and mental retardation (DOOR syndrome) and review the literature. It appears that abnormal dermatoglyphics are a frequent feature of the DOOR syndrome, as all patients with DOOR syndrome in whom dermatoglyphic investigations were done, had multiple arches on their fingertips.
Bos
C J
CJ
Clinical Genetics Center Utrecht, The Netherlands.
Ippel
P F
PF
Beemer
F A
FA
D001847:Bone Diseases / Q000000981:diagnostic imaging*; D002675:Child, Preschool; D003638:Deafness; D003878:Dermatoglyphics; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis*; D008297:Male; D009260:Nail Diseases / Q000175:diagnosis*; D011859:Radiography; D013577:Syndrome