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Literature DB >> 6441438

Cerebro-ocular dysplasia-muscular dystrophy (COD-MD) syndrome.

J Towfighi, J W Sassani, K Suzuki, R L Ladda.

Abstract

The Fukuyama form of congenital muscular dystrophy (FCMD), first described in Japan, is associated with distinct dysplastic cerebral malformations including agyria and micropolygyria of cerebral cortex, micropolygyria of cerebellum, and leptomeningeal gliomesodermal proliferations. We describe seven cases in four families from the United States with a syndrome similar to FCMD but with additional ophthalmic malformations. We believe that these cases represent a form of congenital muscular dystrophy different from FCMD and termed it cerebro-ocular dysplasia-muscular dystrophy (COD-MD) syndrome.

Entities: Disease Gene

Mesh：

Year: 1984 PMID： 6441438 DOI： 10.1007/bf00690464

Source DB: PubMed Journal: Acta Neuropathol ISSN： 0001-6322 Impact factor: 17.088

21 in total

10. Neuropathological findings in muscle-eye-brain disease (MEB-D). Neuropathological delineation of MEB-D from congenital muscular dystrophy of the Fukuyama type.

Authors: Q H Leyten; K Renkawek; W O Renier; F J Gabreëls; C M Mooy; H J ter Laak; R A Mullaart
Journal: Acta Neuropathol Date: 1991 Impact factor: 17.088

Cerebro-ocular dysplasia-muscular dystrophy (COD-MD) syndrome.

1. Congenital encephalo-ophthalmic dysplasia.

2. Ophthalmological findings in a new syndrome with muscle, eye and brain involvement.

3. Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations.

4. A familial syndrome of central nervous system and ocular malformations.

5. Warburg syndrome.

6. Hydrocephalus, agyria, pseudoencephalocele, retinal dysplasia, and anterior chamber anomalies.

7. A morphological study of non-Japanese congenital muscular dystrophy associated with cerebral lesions.

Review 8. The heterogeneity of microphthalmia in the mentally retarded.

9. Ocular manifestations of congenital muscular dystrophy (Fukuyama type).

10. Ophthalmological findings of muscular dystrophies: a survey of 53 cases.

1. Unlayered polymicrogyria: structural and developmental aspects.

Review 2. Malformations of cortical development.

3. Fetal type II lissencephaly: a case report.

4. Ocular malformations and lissencephaly.

5. Ocular findings in Walker-Warburg syndrome.

6. Neuropathology of lissencephalies.

7. The clinical and radiological evaluation of lissencephaly.

8. Cerebro-ocular dysplasia--muscular dystrophy (Walker Warburg) syndrome. Findings in 20-week-old fetus.

9. MRI of the brain in muscle-eye-brain (MEB) disease.

10. Neuropathological findings in muscle-eye-brain disease (MEB-D). Neuropathological delineation of MEB-D from congenital muscular dystrophy of the Fukuyama type.