A second case of severe mental retardation and absent nails of hallux and pollex (Temple-Baraitser syndrome).
We present a case of a male with severe mental retardation, seizure disorder, and absence/hypoplasia of the thumb and great toe nails. This combination of clinical findings has been reported only once previously. We suggest it represents a distinct syndrome. Our case has the additional finding of broad thumbs.
Gabbett
Michael T
MT
Genetic Health Queensland, Royal Children's Hospital, Brisbane, Australia. michael_gabbett@health.qld.gov.au
Clark
Ronald C
RC
McGaughran
Julie M
JM
D000015:Abnormalities, Multiple / Q000175:diagnosis; D002675:Child, Preschool; D006214:Hallux / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000175:diagnosis*; D008297:Male; D009264:Nails, Malformed / Q000151:congenital*; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities*