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["True" microcephaly with dominant-inheritance chorioretinal dysplasia]
Annales De Genetique
|January 1, 1980
Summary
A rare syndrome involving microcephaly, intellectual disability, and chorioretinal dysplasia, typically autosomal recessive, may also exhibit dominant inheritance patterns, as suggested by a new family study.
Area of Science:
- Genetics
- Ophthalmology
- Neurology
Background:
- Microcephalies represent a heterogeneous group of developmental disorders.
- A specific syndrome includes microcephaly, mental retardation, and chorioretinal dysplasia.
- Associated features can include microphtalmia and embryonic remnants like persistent primary vitreum.