Trichorhinophalangeal syndrome type I

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...

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Veröffentlicht in:	Journal of the European Academy of Dermatology and Venereology 1998-07, Vol.11 (1), p.66-68
Hauptverfasser:	George, Soshamma, Pulimood, Susanne, Korah, Ipeson
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Alopecia - pathology Brachyphalangeal dysostoses Female Finger Joint - abnormalities Finger Joint - diagnostic imaging Fingers - abnormalities Humans Nose - abnormalities Radiography Syndrome Toe Joint - abnormalities Toe Joint - diagnostic imaging Toes - abnormalities Trichorhinophalangeal syndrome
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Beschreibung
Zusammenfassung:	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.
ISSN:	0926-9959 1468-3083
DOI:	10.1111/j.1468-3083.1998.tb00957.x