The Langer-Giedion syndrome: report of a 22-year old woman.
A 22-year-old woman with the Langer-Giedion syndrome and delayed puberty is presented. Pertinent features include a bulbous nose, sparse hair, protruding ears, multiple cartilaginous exostoses, cone-shaped phalangeal epiphyses, short stature, microcephaly, and mental retardation. She is the oldest patient thus far described with this condition, and is compared to the ten previously published cases. The clinical course of patients with the Langer-Giedion syndrome and the possibility of malignant change in the exostoses have not been established.
D000328:Adult; D004838:Epiphyses / Q000002:abnormalities*; D005097:Exostoses, Multiple Hereditary / Q000150:complications*; D005145:Face; D005260:Female; D006130:Growth Disorders / Q000150:complications*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008831:Microcephaly / Q000150:complications; D011627:Puberty; D013997:Time Factors