Dysmorphic Short Stature: Radiological Diagnosis of Trichorhinophalangeal Syndrome
Joint Authors
Nicolescu, Ramona
Kasongo, Laura
Rausin, L.
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-11-21
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Nicolescu, Ramona& Kasongo, Laura& Rausin, L.. 2018. Dysmorphic Short Stature: Radiological Diagnosis of Trichorhinophalangeal Syndrome. Case Reports in Pediatrics،Vol. 2018, no. 2018, pp.1-5.
https://search.emarefa.net/detail/BIM-1149110
Modern Language Association (MLA)
Nicolescu, Ramona…[et al.]. Dysmorphic Short Stature: Radiological Diagnosis of Trichorhinophalangeal Syndrome. Case Reports in Pediatrics No. 2018 (2018), pp.1-5.
https://search.emarefa.net/detail/BIM-1149110
American Medical Association (AMA)
Nicolescu, Ramona& Kasongo, Laura& Rausin, L.. Dysmorphic Short Stature: Radiological Diagnosis of Trichorhinophalangeal Syndrome. Case Reports in Pediatrics. 2018. Vol. 2018, no. 2018, pp.1-5.
https://search.emarefa.net/detail/BIM-1149110
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1149110