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An Italian family affected by autosomal dominant microcephaly with chorioretinal degeneration
- Source :
- Scopus-Elsevier, Europe PubMed Central
-
Abstract
- Purpose: We studied an Italian family affected by the autosomal dominant form of microcephaly and Chorioretinal degeneration that was characterized by various degrees of clinical expression. Methods: An ophthalmologic examination, including visual acuity, visual field testing, an electroretinogram, and fundus photography, and a neurologic examination, including neurodevelopmental status and neuroimaging studies, were performed for all subjects. Skeletal radiography, chromosome studies, and serologie investigations were also performed. Results: In this family, only two of the six affected members had an association of microcephaly, myopia, and chorioretinal degeneration. The other family members showed microcephaly, slight mental retardation, and short stature, but not chorioretinopathy. Conclusions: The significant finding in members from this dominant pedigree of microcephaly was the association of short stature and high myopia, heretofore seen only in families with recessive microcephaly. These findings could be useful for genetic counseling in the apparently isolated forms of microcephaly with chorioretinopathy. J Pediatr Ophthalmol Strabismus 2002;39:288292.
- Subjects :
- Retinal degeneration
Adult
Male
medicine.medical_specialty
Pediatrics
Microcephaly
Visual acuity
genetic structures
Fundus Oculi
Eye disease
Genetic counseling
Visual Acuity
Short stature
Choroid Disease
Ophthalmology
Intellectual Disability
medicine
Myopia
Humans
medicine.diagnostic_test
business.industry
Retinal Degeneration
Fundus photography
Chorioretinitis
Choroid Diseases
General Medicine
Middle Aged
medicine.disease
eye diseases
Pedigree
Child, Preschool
Pediatrics, Perinatology and Child Health
Female
medicine.symptom
business
Human
Subjects
Details
- Database :
- OpenAIRE
- Journal :
- Scopus-Elsevier, Europe PubMed Central
- Accession number :
- edsair.doi.dedup.....c6ed3d5578e8149e7247422ddbcc6591