title: Crooked fingers and sparse hair: an interesting case of trichorhinophalangeal syndrome type 1.
abstract: Trichorhinophalangeal syndrome type 1 is a rare skeletal dysplasia of autosomal-dominant inheritance due to defects in the TRPS-1 gene. The syndrome is characterised by sparse slow-growing hair, a bulbous pear-shaped nose, cone-shaped epiphyses and deformities of the interphalangeal joints resembling those in rheumatoid arthritis. We present a case of trichorhinophalangeal syndrome in a 23-year-old man who presented with symmetrical painless progressive deformity of the fingers in both hands.
authors: Department of Radiodiagnosis, Kasturba Medical College, Manipal University, Udupi, Karnataka, India.
authors: Ramakrishna
authors: R
authors: Narayanan
authors: Department of Rheumatology, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.
authors: Srinivasa
authors: S
authors: Chennareddy
mesh_terms: D001172:Arthritis, Rheumatoid / Q000175:diagnosis*; D003937:Diagnosis, Differential; D018450:Disease Progression; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006201:Hair Diseases / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000534:rehabilitation; D006801:Humans; D015826:Langer-Giedion Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000534:rehabilitation; D008297:Male; D009666:Nose / Q000002:abnormalities* / Q000000981:diagnostic imaging; D009788:Occupational Therapy; D011859:Radiography; D014034:Toes / Q000002:abnormalities; D055815:Young Adult
references: Case Rep Genet. 2013;2013:748057
references: 23691375
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