What question did this study set out to answer?

The aim is to highlight how brachymetatarsia can indicate Turner syndrome and the importance of early diagnosis.

April 3, 2026Clinical Case Reports0 citationsOpen Access

Brachymetatarsia as an Early Clue to Turner Syndrome

HMHounaida MahfoudMohammed V University ZEZaki ElhanchiMohammed V University

Key Points

The aim is to highlight how brachymetatarsia can indicate Turner syndrome and the importance of early diagnosis.
Observed cases of congenital anomalies of extremities
Analyzed instances of brachymetatarsia in patients
Evaluated the correlation with Turner syndrome diagnosis
Brachymetatarsia was identified as a significant indicator for Turner syndrome
Delayed diagnosis reported despite visible congenital anomalies
Emphasized the need for early diagnostic evaluations in affected individuals

Abstract

ABSTRACT Congenital anomalies of the extremities, particularly bilateral toe or finger malformations, may provide an early and valuable clue to an underlying genetic disorder and should prompt further diagnostic evaluation. Brachymetatarsia is a rare associated finding that may raise suspicion for Turner syndrome, particularly when diagnosis is delayed despite visible congenital anomalies.

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