Dysmorphic Short Stature: Radiological Diagnosis of Trichorhinophalangeal Syndrome

Author:

Nicolescu Corina Ramona1ORCID,Kasongo Laura1,Rausin Léon2

Affiliation:

1. Division of Endocrinology and Diabetes, Department of Pediatrics, University of Liege, Centre Hospitalier Regional de la Citadelle, Bld du 12eme de Ligne 1, 4000 Liege, Belgium

2. Radiology Department, University of Liege, Centre Hospitalier Regional de la Citadelle, Bld du 12eme de Ligne 1, 4000 Liege, Belgium

Abstract

Trichorhinophalangeal syndrome (TRPS), a type of skeletal dysplasia, is characterized by a triad of dysmorphic (bulbous nose and large ears); ectodermal (thin and sparse hair); and skeletal (short stature and cone-shaped epiphyses) findings, and this combination is helpful for early diagnosis and appropriate follow-up. A 14-year-old boy presented with short stature and distinctive facial features, and following the first clinical and biological evaluation, no precise diagnosis was reached. Progressive bilateral development of noninflammatory and painless deformity of his second finger required a radiological exam that highlighted the key elements (cone-shaped epiphyses) for final diagnosis. This case illustrates the difficulties to early recognition of TRPS when the clinical presentation is not complete and radiological findings are missing.

Publisher

Hindawi Limited

Subject

General Medicine

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