Aminopterin Syndrome Sine Aminopterin (ASSA) syndrome in two siblings: further delineation of the syndrome and review of the literature.

In this report we describe two sibs with an unusual and complex pattern of severe malformations resembling Aminopterin Syndrome Sine Aminopterin (ASSA) syndrome, the phenotypic features of which are similar to those of aminopterin embryopathy. Six nonfamilial cases of ASSAS have been published in the literature to date. Our family with two affected sibs of different sexes supports the previous suggestion of autosomal recessive inheritance. Consanguinity of parents was excluded in this family, just as in all of the previously reported cases. Similar cases from the literature are briefly reviewed.