Trichorhinophalangeal syndrome, type II (Langer-Giedion syndrome).
Trichorhinophalangeal syndrome (TRPS) is characterized by its unique facial features and skeletal abnormalities. A bulbous, pear-shaped nose, elongated philtrum, sparse hair, cone-shaped epiphyses and mild growth retardation are found in both type I (TRPSI) and type II (TRPSII). TRPSII can be distinguished from TRPSI when multiple exostoses or redundant skin are present. While TRPSI is inherited in an autosomal dominant fashion, most cases of TRPSII are sporadic although there are a few cases which are familial. The following is a case report of TRPSII with incomplete penetrance in the index case and exostoses and growth retardation in the patient's two siblings.
Shin
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The Ronald O. Perelman Department of Dermatology, New York University Medical Center, New York, New York, USA.
Chang
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D000293:Adolescent; D005097:Exostoses, Multiple Hereditary / Q000235:genetics / Q000473:pathology; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006314:Hearing Loss, Conductive / Q000473:pathology; D006801:Humans; D015826:Langer-Giedion Syndrome / Q000145:classification / Q000473:pathology* / Q000601:surgery