TY - JOUR
T1 - Crooked fingers and sparse hair
T2 - An interesting case of trichorhinophalangeal syndrome type 1
AU - Narayanan, Ramakrishna
AU - Chennareddy, Srinivasa
PY - 2015/1/27
Y1 - 2015/1/27
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84922128820&partnerID=8YFLogxK
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U2 - 10.1136/bcr-2014-207645
DO - 10.1136/bcr-2014-207645
M3 - Article
C2 - 25628322
AN - SCOPUS:84922128820
SN - 1757-790X
VL - 2015
JO - BMJ Case Reports
JF - BMJ Case Reports
M1 - 146
ER -