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Hemihypertrophy, hemimegalencephaly, and polydactyly

W Reardon¹, B Harding, R M Winter

¹Department of Clinical Genetics, Hospital for Children, London, United Kingdom.

American Journal of Medical Genetics

|December 11, 1996

Summary

This study details a patient with hemihypertrophy and hemimegalencephaly, possibly Proteus syndrome. Polysyndactyly suggests it

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Area of Science:

Clinical Genetics
Neuropathology
Rare Diseases

Background:

Proteus syndrome is a rare congenital disorder characterized by asymmetric, segmental overgrowth.
Hemimegalencephaly and hemihypertrophy are common features, but polysyndactyly is not typically associated.

Observation:

Clinical and neuropathological data from a patient exhibiting hemihypertrophy and hemimegalencephaly were analyzed.
The patient also presented with polysyndactyly, a condition involving fused or extra digits.

Findings:

The presence of polysyndactyly in this case challenges the typical presentation of Proteus syndrome.
This finding raises questions about whether polysyndactyly is a rare manifestation or indicative of a distinct, yet similar, condition.

Implications:

Further research is needed to clarify the spectrum of clinical manifestations in Proteus syndrome.
Differentiating between Proteus syndrome and similar conditions is crucial for accurate diagnosis and patient management.

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