Trichorhinophalangeal syndrome

Abstract

Trichorhinophalangeal syndrome I (TPRSI) has an autosomal dominant inheritance; the proportion of «de novo» cases is unknown¹. It is characterized by unique facial features, bulbous nose, flat and elongated nasolabial furrow, thin hair and slow growth. Skeletal abnormalities that include short phalanges and metacarpals -brachydactyly-, cone-shaped epiphyses, hip dysplasia and short stature^1-3.

Keywords: Anomalías esqueléticas; Imágenes radiológicas; Radiological images; Skeletal abnormalities; Síndrome tricorinofalángico; Tipos; Trichorhinophalangeal syndrome; Types.