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["True" microcephaly with dominant-inheritance chorioretinal dysplasia]
Annales De Genetique
|January 1, 1980
Abstract:
Within the heterogeneous group of microcephalies, a syndrome can be defined characterized by microcephaly, mental retardation, and chorioretinal dysplasia, often also with microphtalmia and embryonic remnants such as persistance of the primitive vitreum. Although this condition is usually considered autosomal recessive, the authors report a family observation consistent with dominant transmission.
Insights
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.