Tricho-rhino-pharyngeal syndrome (TRPS) is a rare genetic disorder, which is characterized by craniofacial and skeletal abnormalities. This report presents three cases of TRPS (two sporadic and one familial). Clinical presentation included typical facial features (pear-shape nose, long flat philtrum, thin upper vermilion border and protruding ears), thin, sparse scalp hair and different skeletal abnormalities with normal mentation. Case 1: 5.5-year-old boy with short stature (GH deficiency excluded), clinically no skeletal abnormalities, but radiological assessment confirmed cone-shaped epiphyses at the phalanges. Moreover his father manifested the disease phenotype (not genetically confirmed yet). Case 2: 12-year-old girl hospitalized with growth velocity retardation, with clinical and radiological epiphyseal deformities in phalanges, right humerus and brachydactyly of toes. Genetic analysis confirmed interstitial heterozygous microdeletion of 8q24. Case 3: 13.5-year-old with short stature (GH deficiency excluded), typical epiphyseal deformities in phalanges and Perthes-like left hip deformation. Interestingly, none of TRPS features were found in her twin sister. Both girls (Case 2 and 3) had also mild vitamin D insufficiency. The wide variability in clinical expression of TRPS can mimic the other pathology (i.e. GH deficiency). The cooperation of multidisciplinary team seems to be essential in the proper management of these patients.
17 May 2014 - 20 May 2014