Further case of aminopterin syndrome sine aminopterin in a Spanish child.
We report on a Spanish child with clinical manifestations suggestive of aminopterin syndrome sine aminopterin (ASSA), having unusual hair pattern, syndactyly of fingers and toes, low-set thumbs, high-arched palate, and mild developmental delay. However, he does not show other characteristic features of ASSA such as ossification defects of the cranium, microcephaly, hypertelorism, cryptorchidism, or growth retardation. Differences from and similarities with Juberg-Hayward syndrome are discussed. Because few patients have been reported so far it is difficult to distinguish between these two conditions, and it may be that they are variants of the same nosological entity. Consanguinity of parents in this family supports autosomal recessive inheritance of ASSA.
Garcia-Minaur
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Department of Paediatrics, Hospital de Cruces, Barakaldo, Spain. sixto@sarenet.es
Botella
M P
MP
D000015:Abnormalities, Multiple / Q000235:genetics*; D000630:Aminopterin; D002648:Child; D003241:Consanguinity; D005147:Facial Bones / Q000002:abnormalities; D005493:Folic Acid Antagonists; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D008297:Male; D012886:Skull / Q000002:abnormalities; D013577:Syndrome
D005493:Folic Acid Antagonists; D000630:Aminopterin