Skeletal abnormalities of tricho-rhino-phalangeal syndrome type I.
The tricho-rhino-phalangeal syndrome (TRPS) type I is a rare genetic disorder related to the TRPS1 gene mutation in chromosome 8, characterized by craniofacial abnormalities and disturbances in formation and maturation of bone matrix. The hallmarks are sparse and brittle hair, tendency to premature baldness, bulbous nose called pear-shaped, long and flat filter and low ear implantation. The most noticeable skeletal changes are clinodactyly, phalangeal epiphyses of the hands appearing as cone-shaped, short stature and hip joint malformations. We report a case of a teenager boy diagnosed with TRPS and referred for rheumatologic evaluation due to joint complaints.
Universidade Federal de Minas Gerais, Belo Horizonte, Belo Horizonte, MG, Brazil.
Guilherme Monteiro
GM
de Barros
Universidade Federal de Minas Gerais, Belo Horizonte, Belo Horizonte, MG, Brazil. Electronic address: amkakehasi@gmail.com.
Adriana Maria
AM
Kakehasi
D000293:Adolescent; D018771:Arthralgia / Q000209:etiology* / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D050278:Finger Phalanges / Q000002:abnormalities; D005385:Fingers / Q000002:abnormalities* / Q000503:physiopathology; D006201:Hair Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D015826:Langer-Giedion Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D009666:Nose / Q000002:abnormalities* / Q000503:physiopathology; D012097:Repressor Proteins; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
D004268:DNA-Binding Proteins; D012097:Repressor Proteins; C108387:TRPS1 protein, human; D014157:Transcription Factors
Genetic syndrome; Joint malformations; Malformações articulares; Síndrome genética; Síndrome tricorrinofalangiana tipo I; Tricho-rhino-phalangeal syndrome type I