APLASIA-CUTIS-CONGENITA ASSOCIATED WITH LIMB, EYE, AND BRAIN ANOMALIES IN SIBS - A VARIANT OF THE ADAMS-OLIVER SYNDROME

Aplasia cutis congenita (ACC) may occur in isolation or with other con genital malformations. Peripheral limb anomalies and ACC are major ele ments of the Adams-Oliver syndrome, which is usually inherited as an a utosomal dominant disorder. We report on a sister and brother with ACC and brain, eye, and transverse limb anomalies. The phalanges of the h ands and feet were either short or absent. The girl also had absence o f right patella, was severely mentally retarded and blind with retinal nonattachment. The boy had a falciform fold in the left eye. He died at age one week and autopsy showed partial agenesis of corpus callosum . The findings in the sibs may represent a severe variant of the Adams -Oliver syndrome, or a previously unrecognized syndrome involving vasc ular disruption. (C) 1995 Wiley-Liss, Inc.