Fraser syndrome

Case contributed by Dr Matt A. Morgan

Presentation

Dysmorphic facies. Multiple anomalies.

Patient Data

Gender: Male
X-ray

~9 months

Right hand: clenched fist, syndactyly

X-ray

~2 years old

Craniofacial dysmorphism.

Case Discussion

Fraser syndrome carries an autosomal recessive inheritance with an abnormal gene locus at 4p21. It is extremely rare, but when it does occur, it can result in multiple musculoskeletal anomalies.

This case was established through genetic analysis.

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Case information

rID: 37715
Published: 19th Jun 2015
Last edited: 14th Aug 2019
System: Paediatrics
Inclusion in quiz mode: Excluded

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