Vollständiger Abstract
Worum geht es in dieser Arbeit?
Trichorhinophalangeal syndrome (TRPS) is a very rare genetic disorder comprised of three recognised types, all characterised by short, deformed fingers with cone-shaped epiphyses (CSE) visible on radiographs. TRPS type I is the most common subtype. We report the case of a girl in her mid-teens who presented with the characteristic clinical and radiological features of TRPS type I. The diagnosis was confirmed by whole-exome sequencing, which identified a novel heterozygous variant in the TRPS1 gene. This case highlights a structured diagnostic approach to CSE and may further expand the mutational spectrum of TRPS type I.
Bibliografischer Nachweis
Publikationsdaten
- Autor:innen
- Rimjhim Maheshwari, Prashant Kumar Verma, Vivek Singh, Shikhar Garg
- Quelle
- BMJ Case Reports
- Publikation
- 2026-01-01
- Band / Ausgabe
- Nicht angegeben
- Seiten
- Nicht angegeben
- ISSN / ISBN
- 1757-790X
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Zitierfähiger Nachweis
Rimjhim Maheshwari, Prashant Kumar Verma, Vivek Singh, Shikhar Garg (2026). Dysmorphic child with cone-shaped epiphyses: a diagnostic approach and novel trichorhinophalangeal syndrome gene variant. BMJ Case Reports. https://doi.org/10.1136/bcr-2025-270257