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Kabuki make-up syndrome in a Caucasian
Ophthalmic Paediatrics and Genetics
|August 1, 1986
Summary
Kabuki make-up syndrome can present with adolescent-onset cataracts and primary ovarian dysfunction, even in older patients. This case highlights unique endocrine and ocular manifestations in a young adult with Kabuki make-up syndrome.
Area of Science:
- Genetics and rare diseases
- Endocrinology
- Ophthalmology
Background:
- Kabuki make-up syndrome is a rare genetic disorder characterized by distinctive facial features, developmental delay, and organ malformations.
- Previous reports primarily describe younger patients with Kabuki make-up syndrome, with limited data on adolescent or adult manifestations.