What question did this study set out to answer?

The aim is to describe a case of nail–patella syndrome linked to a specific genetic mutation.

June 4, 2026

Nail–patella syndrome

Key Points

The aim is to describe a case of nail–patella syndrome linked to a specific genetic mutation.
Case report of a 9-year-old girl with nail–patella syndrome
Genetic analysis identified a heterozygous nonsense LMX1B mutation in the patient and her father
Clinical features assessed included nail hypoplasia, small patella, and iliac horns.
The girl exhibited the classic triad of symptoms: nail hypoplasia, small patella, and iliac horns.
The father with the same mutation showed no renal issues, indicating incomplete penetrance.
Long-term follow-up is justified due to variable expression of the mutation.

Abstract

We report a 9-year-old girl with nail–patella syndrome caused by a heterozygous nonsense LMX1B mutation. She presented with the classic triad of nail hypoplasia, small patella and iliac horns. Her father carried the same mutation with normal renal function, illustrating incomplete penetrance and justifying long-term follow-up.

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Cite This Study

Li et al. (Fri,) studied this question.

synapsesocial.com/papers/6a2117fdd499ed480b170d89 https://doi.org/https://doi.org/10.1093/bjd/ljag159

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