Further case of aminopterin syndrome sine aminopterin in a Spanish child

We report on a Spanish child with clinical manifestations suggestive of ami nopterin syndrome sine aminopterin (ASSA), having unusual hair pattern, syn dactyly of fingers and toes, low-set thumbs, high-arched palate, and mild d evelopmental delay. However, he does not show other characteristic features of ASSA such as ossification defects of the cranium, microcephaly, hyperte lorism, cryptorchidism, or growth retardation, Differences from and similar ities with Juberg-Hayward syndrome are discussed. Because few patients have been reported so far it is difficult to distinguish between these two cond itions, and it may be that they are variants of the same nosological entity . Consanguinity of parents in this family supports autosomal recessive inhe ritance of ASSA, (C) 2000 Wiley-Liss, Inc.