A familial case of trichorhinophalangeal syndrome type I.
Trichorhinophalangeal type I (TRPS I) is a rare autosomal dominant disorder characterized by variable clinical expression of sparse and slow-growing hair, pear-shaped nose, elongated philtrum, and bone deformities, including cone-shaped epiphyses of the phalanges and short stature. We describe three members of a family who consulted us because of slow-growing scalp hair with craniofacial and radiological features typical of TRPS I.
Vaccaro
Mario
M
University of Messina, Institute of Dermatology, Policlinico Universitario, Via Consolare Valeria, 98125 Messina, Italy. mario.vaccaro@unime.it
Guarneri
Fabrizio
F
Barbuzza
Olga
O
Gaeta
Michele
M
Guarneri
Claudio
C
D001827:Body Height / Q000235:genetics; D002648:Child; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D050278:Finger Phalanges / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005413:Flatfoot / Q000151:congenital / Q000235:genetics; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010159:Palate / Q000002:abnormalities; D011859:Radiography; D012097:Repressor Proteins; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
D004268:DNA-Binding Proteins; D012097:Repressor Proteins; C108387:TRPS1 protein, human; D014157:Transcription Factors