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Oculocutaneous albinism associated with Apert's syndrome
American Journal of Ophthalmology
|December 1, 1977
Summary
Five patients with Apert syndrome (acrocephalosyndactyly) exhibited hypopigmentation of hair, skin, and eyes. This suggests a potential link between genetic factors affecting pigmentation and skeletal development in Apert syndrome.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Apert syndrome (acrocephalosyndactyly) is a genetic disorder characterized by premature fusion of skull sutures and syndactyly.
- Oculocutaneous albinism is a group of genetic disorders characterized by reduced or absent melanin pigment in the skin, hair, and eyes.