Microcephaly, microphthalmos, and retinal folds: report of a family.
Open Access
- 1 March 1987
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 24 (3) , 172-174
- https://doi.org/10.1136/jmg.24.3.172
Abstract
A retarded boy with microcephaly, microphthalmos, and retinal folds is described. His mother and sister showed microphthalmos and the sister was also microcephalic. Another family showing similar findings has been described, indicating that this combination of abnormalities constitutes a discrete entity showing single gene inheritance.Keywords
This publication has 10 references indexed in Scilit:
- X-Linked recessive primary retinal dysplasia: clinical findings in affected males and carrier femalesClinical Genetics, 2008
- Ocular Findings in a New Heritable Syndrome of Brain, Eye, and Urogenital AbnormalitiesAmerican Journal of Ophthalmology, 1985
- Interstitial del(13q) associated with blindness and mental retardationAmerican Journal of Medical Genetics, 1984
- Falciform retinal fold as sign of familial exudative vitreoretinopathy.1983
- Microcephaly, Microphthalmia, Falciform Retinal Folds, and BlindnessAmerican Journal of Diseases of Children, 1981
- Doyne Memorial Lecture, 1979. Retinal malformations: aetiological heterogeneity and morphological similarity in congenital retinal non-attachment and falciform folds.1979
- Hydrocephaly, Congenital Retinal Nonattachment, And Congenital Falciform FoldAmerican Journal of Ophthalmology, 1978
- Microcephalic dwarfism in sisters.1974
- [Two cases of ablatio falciformis congenita and other 2 cases of ocular congenital anomalies, which appeared in a pedigree with consangineous marriages].1962
- CONGENITAL RETINAL FOLDS AND MICROCEPHALYArchives of Ophthalmology (1950), 1941