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Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa.

A M Ali¹, R M Mbwasi¹, G Kinabo¹

¹Department of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, Tanzania.

Case Reports in Genetics

|June 7, 2017

Summary

This study details a male infant with Freeman-Sheldon syndrome, a rare genetic disorder. Genetic analysis confirmed a MYH3 gene mutation, marking the first molecularly confirmed case in sub-Saharan Africa.

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Area of Science:

Genetics
Pediatrics
Rare Diseases

Background:

Freeman-Sheldon syndrome is a rare, severe autosomal dominant distal arthrogryposis.
It presents with distinctive clinical features affecting limb development.

Observation:

A male infant presented with characteristic signs of Freeman-Sheldon syndrome.
Clinical diagnosis was supported by genetic analysis.

Findings:

A de novo missense mutation (c.2015G>A; p.Arg672His) in the MYH3 gene was identified.
This genetic finding confirms the diagnosis of Freeman-Sheldon syndrome.

Implications:

This case represents the first molecularly confirmed instance of Freeman-Sheldon syndrome in sub-Saharan Africa.
Understanding the MYH3 gene's role is crucial for diagnosing and managing this condition.
Highlights the importance of genetic analysis in diagnosing rare congenital disorders.