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.

Asunto(s)

Hallux/anomalías , Discapacidad Intelectual/complicaciones , Discapacidad Intelectual/diagnóstico , Uñas Malformadas/congénito , Pulgar/anomalías , Anomalías Múltiples/diagnóstico , Preescolar , Humanos , Masculino , Síndrome