Tricho-rhino-phalangeal syndrome type I in a Belgian family

Abstract

We report three cases of tricho-rhino-phalangeal syndrome (TRPS) type I in a Belgian family. They presented typical characteristics such as a pear-shaped nose, and short, deformed fingers with cone-shaped epiphyses of some middle phalanges of the hands. Hair growth was practically normal in our patients, except for some narrowing of the lateral part of the eyebrows. Perthes-like hip dysplasia was documented in two of our cases. The proband presented at the age of 31 with Kienböch's disease of the right wrist. Blood and urine analysis showed no clear anomalies. In this patient, echography revealed a renal cyst containing a stone. The relationship of these findings to TRPS is discussed.

Late manifestations of tricho‐rhino‐pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood

“…Joint problems such as Perthes‐like hip disease, joint stiffness, and chronic joint pain are relatively common in TRPS patients [Verbruggen et al, 1987; Dunbar et al, 1995; McGuire et al, 2000]. Our patient manifested severe multiple joint pain related to osteoarthritis.…”

Trichorhinophalangeal Syndrome

“…Giedion [3] described a case with complete baldness in childhood. The hair is usually of a light color and the patients almost never need a haircut [4, 7 -9 , 11, 16, 19-24], although there are some reports of patients with practically normal hair growth [4,6,25,26]. McCloud and Solomon [16] showed a reduced number of hair follicles in scalp biopsies.…”

“…Our patient revealed all typical features of TRPS includ ing short stature, pear-shaped nose, lateral rarefaction of the eyebrows, thin upper lip, brachymetacaipalia and progres sive hair loss [4][5][6][7][8][9] and, in addition, a small protuberance [12. 13], Apart from the shortening of metacarpals, the radiographs of the hand skeleton in TRPS show coneshaped epiphyses which are regarded as an essential crite rion for the diagnosis of the TRPS [3, 9, 14.…”