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Am J Med Genet A ; 146A(4): 450-2, 2008 Feb 15.
Article in English | MEDLINE | ID: mdl-18203178

ABSTRACT

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.


Subject(s)
Hallux/abnormalities , Intellectual Disability/complications , Intellectual Disability/diagnosis , Nails, Malformed/congenital , Thumb/abnormalities , Abnormalities, Multiple/diagnosis , Child, Preschool , Humans , Male , Syndrome
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