Trichorhinophalangeal syndrome type I

Autor: S, George, S, Pulimood, I, Korah
Rok vydání: 1998
Předmět:
Zdroj: Journal of the European Academy of Dermatology and Venereology : JEADV. 11(1)
ISSN: 0926-9959
Popis: A 32-year-old short statured woman with alopecia, typical facies, shortened angulated fingers and toes with Trichorhinophalangeal syndrome type I (TRPS I) is reported. The absence of exostosis and mental retardation rule out TRPS II. The absence of generalized shortness of all phalanges, metacarpals and metatarsals distinguish it from TRPS III. Possibly the various types of Trichorhinophalangeal syndrome are genetically identical but have a varied clinical spectrum.
Databáze: OpenAIRE