Bone Abstracts

Background: Tricho-rhino-pharyngeal syndrome (TRPS) is a rare genetic disorder, which is characterized by craniofacial and skeletal abnormalities. Presenting problem: This report presents four cases of TRPS (three 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. All of them were admitted to the Department of Paediatric Endocrinology due to different endocrinopathies suspicion.

Clinical management: Case 1: a 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 typical disease phenotype (not genetically confirmed yet). Case 2: a 12-year-old girl hospitalized with growth velocity retardation, with clinical and radiological epiphyseal deformities in phalanges, right humerus, and brachydactyly of toes sent as a suspicion of the calcium and phosphorus metabolism disorder. Case 3: a 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. Case 4: a 11-year-old girl with the suspicion of Turner syndrome (excluded by normal karyotype), with short stature, mild deformities of phalanges. Moreover, in the medical history an orthopaedic surgery in both hips due to Perthes deformation was noted. Hormonal analysis showed also partial GH deficiency and now recombinant GH therapy is considered. Every girls (cases 2, 3, and 4) had also mild vitamin D insufficiency. In cases 2 and 3 a genetic analysis revealed interstitial heterozygous microdeletion of 8q24 which confirmed TRPS.

Discussion: The wide variability in clinical expression of TRPS can mimic the other pathology (i.e. GH deficiency, other syndromic growth retardation, other calcium-phosphorus metabolism disturbances). The cooperation of multidisciplinary team seems to be essential in the proper management of these patients.

Disclosure: The authors declared no competing interests.