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Transmission of Proteus syndrome from father to son?
J Goodship1, A Redfearn, D Milligan
1Division of Human Genetics, Newcastle upon Tyne.
Journal of Medical Genetics
|November 1, 1991
Insights
This study reports a male infant diagnosed with Proteus syndrome, characterized by hemi-hypertrophy and various benign tumors. Evidence suggests possible father-to-son transmission of this rare genetic disorder.
Area of Science:
- Genetics
- Dermatology
- Pediatrics
Background:
- Proteus syndrome is a rare congenital disorder characterized by segmental overgrowth and benign tumors.
- Clinical manifestations vary widely, making diagnosis challenging.
- Genetic factors are implicated, but transmission patterns are not fully understood.
Abstract:
We present a male infant with cranial hemi-hypertrophy, a lymphangioma, a lipoma, and epidermal naevi. A diagnosis of Proteus syndrome was made. His father had had a large lymphangioma resected from the right side of the face as a child. We propose that Proteus syndrome has been transmitted from father to son.