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.
A familial case of trichorhinophalangeal syndrome type I.
VACCARO, Mario;GUARNERI, Fabrizio Nicola Giuseppe;GAETA, Michele;GUARNERI, Claudio
2009-01-01
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.File in questo prodotto:
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