TRICHORHINOPHALANGEAL SYNDROME, TYPE-I

We describe a patient with trichorhinophalangeal syndrome type I (TRPS -I) who had been previously diagnosed as having anhidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome). The TRPS-I phenotype is characterized by fine, sparse, brittle hair in association with a bulb ous pear-shaped nose, tented alae, a long extended philtrum, a thin up per lip, and a horizontal groove on the chin. There may be clinobrachy dactyly with ulnar deviation and dystrophic nails. The radiographic fi ndings include cone-shaped epiphyses of the middle phalanges with shor tened metacarpals. Genetic findings include deletion of chromosome ban d 8q24.12. Patients with all variants of TRPS need prompt and accurate assessment because musculoskeletal dysplasia is a universal feature i n this syndrome. We review TRPS and similar syndromes to assist the ac curate diagnosis of these lifelong maladies.