Cornelia de Lange's syndrome. Report of a case associating pulmonary hypoplasia and elevated thyroxine-binding...

A typical case of Cornelia de Lange's syndrome occurring in an eight year old girl is described herein. As well as the recognized features (osseous and cutaneous anomalies, including hirsutism, mental and growth retardation), this patient showed right pulmonary hypoplasia. Endocrine studies showed no evidence of pituitary, thyroid, or adrenal hypofunction. Thyroxine-binding globulin, however, was elevated, with normal thyroxine by radioimmunoassay and euthyroid state. The authors suggest the possibility of a genetically elevated thyroxin-binding globulin.