Dysmorphic child with cone-shaped epiphyses: a diagnostic approach and novel trichorhinophalangeal syndrome gene variant.
Rimjhim Maheshwari, Prashant Kumar Verma, Vivek Singh et al.
✦ AI-curated · Sources linked
Case in brief
A teenage girl presented with clinical and radiological features consistent with trichorhinophalangeal syndrome type I, characterized by short, deformed fingers and cone-shaped epiphyses. Whole-exome sequencing confirmed the diagnosis by identifying a novel heterozygous variant in the TRPS1 gene. This case underscores the importance of a structured diagnostic approach to similar presentations.
What made this case unusual
The identification of a novel heterozygous variant in the TRPS1 gene adds to the mutational spectrum of trichorhinophalangeal syndrome type I.
Diagnostic / clinical pearl
Clinicians should consider trichorhinophalangeal syndrome in patients presenting with cone-shaped epiphyses and short, deformed fingers, and utilize genetic testing for confirmation.
Why it matters
This case contributes to the understanding of genetic variations associated with trichorhinophalangeal syndrome, potentially aiding in future diagnoses.