Narayanan Ramakrishna, Chennareddy Srinivasa
Department of Radiodiagnosis, Kasturba Medical College, Manipal University, Udupi, Karnataka, India.
Department of Rheumatology, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.
BMJ Case Rep. 2015 Jan 27;2015:bcr2014207645. doi: 10.1136/bcr-2014-207645.
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.
1型毛发鼻指综合征是一种罕见的常染色体显性遗传骨骼发育不良，由TRPS-1基因缺陷引起。该综合征的特征是头发稀疏、生长缓慢，鼻子呈球根状梨形，骨骺呈锥形，指间关节畸形类似于类风湿关节炎。我们报告一例23岁男性毛发鼻指综合征病例，该患者双手手指出现对称性无痛性进行性畸形。
