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.