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 and metatarsals distinguish it from TRPS III. Possibly the various types of Trichorhinophalangeal syndrome are genetically identical but have a varied clinical spectrum.
George
S
S
Department of Dermatology, Christian Medical College and Hospital, Vellore, Tamilnadu, South India. abraham@cmc.ernet.in
Pulimood
S
S
Korah
I
I
D000328:Adult; D000505:Alopecia / Q000473:pathology*; D005260:Female; D005384:Finger Joint / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D009666:Nose / Q000002:abnormalities*; D011859:Radiography; D013577:Syndrome; D014033:Toe Joint / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014034:Toes / Q000002:abnormalities