| umls-concept:C1321551 | skos:definition | JABL: Premature closure of sutures of the skull associated with marfanoid habitus (tall stature with long and slim limbs, little subcutaneous fat, arachnodactyly, joint hyperextensibility, narrow face, small chin, large testes, and hypotonia), hypotonia, abdominal hernia, developmental delay, and other anomalies. The syndrome was first observed by Shprintzen and Goldberg in the Montefiore Hospital in New York, hence the name Montefiore syndrome. | lld:umls |
