An aminopterin-like syndrome without aminopterin (ASSAS).
In two patients that closely resembled the phenotype of the syndrome produced by aminopterin in early pregnancy, no evidence of maternal exposure could be elicited. These, plus two similar cases from the literature, suggest the existence of an "aminopterin-like syndrome sine aminopterin" (ASSA) syndrome. Characteristic traits are: ossification defects of the cranium, temporal recession of hairline with upswept frontal hair pattern, ocular hypertelorism, prominent nose root, low set posteriorly rotated ears, limited elbow movement, variable digital defects, simian creases, short stature, and mild to moderate psychomotor retardation. Autosomal recessive inheritance is a possibility.
D000015:Abnormalities, Multiple / Q000145:classification* / Q000473:pathology; D000630:Aminopterin; D003394:Craniofacial Dysostosis / Q000145:classification* / Q000473:pathology; D004392:Dwarfism / Q000209:etiology; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000209:etiology; D007223:Infant; D008607:Intellectual Disability / Q000145:classification* / Q000473:pathology; D013577:Syndrome
D000630:Aminopterin