1.
Am J Med Genet A
; 146A(4): 450-2, 2008 Feb 15.
Artículo
en Inglés
| MEDLINE
| ID: mdl-18203178
RESUMEN
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.