Abstract
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.
MeSH terms
-
Body Height / genetics
-
Child
-
Craniofacial Abnormalities / genetics*
-
DNA-Binding Proteins / genetics*
-
Female
-
Finger Phalanges / abnormalities*
-
Finger Phalanges / diagnostic imaging
-
Flatfoot / congenital
-
Flatfoot / genetics
-
Hair / abnormalities*
-
Humans
-
Male
-
Mutation, Missense*
-
Palate / abnormalities
-
Radiography
-
Repressor Proteins
-
Syndrome
-
Transcription Factors / genetics*
Substances
-
DNA-Binding Proteins
-
Repressor Proteins
-
TRPS1 protein, human
-
Transcription Factors