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Article

Dysmorphic child with cone-shaped epiphyses: a diagnostic approach and novel trichorhinophalangeal syndrome gene variant.

BMJ case reports - 7 Sept 2026

Maheshwari Rimjhim, Verma Prashant Kumar, Singh Vivek, Garg Shikhar

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Humans
Langer-Giedion Syndrome
Female
Repressor Proteins
Epiphyses
DNA-Binding Proteins
Transcription Factors

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Hair Diseases

Fingers

Mutation

Exome Sequencing

Radiography

Nose

Source

Identifiers

PMID: 42705688
DOI: 10.1136/bcr-2025-270257

Genes

TRPS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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