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Literature DB >> 4448994

Arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones.

P A Bhaskar, K Jagannathan, K Valmikinathan.

Abstract

Two male cousins are reported with arachnodactyly, selective aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones, and a distant female relative with similar abnormalities. The syndrome is thought to be previously undescribed, though it has resemblances to Marinesco-Sjögren and Marfan's syndromes.

Entities: Disease

Mesh：

Year: 1974 PMID： 4448994 PMCID： PMC1083643 DOI： 10.1136/jnnp.37.12.1299

Source DB: PubMed Journal: J Neurol Neurosurg Psychiatry ISSN： 0022-3050 Impact factor: 10.154

12 in total

1. Cerebellar ataxia, congenital cataracts, and retarded somatic and mental maturation. Report of cases of Marinesco-Sjogren syndrome.

Authors: M ALTER; O R TALBERT; G CROFFEAD
Journal: Neurology Date: 1962-12 Impact factor: 9.910

2. [Heredo ataxia, cataract and oligophrenia (Marinesco-Sjögren syndrome)].

Authors: J B Dureux; J Cordier; P Ziza; P Tridon
Journal: Rev Neurol (Paris) Date: 1958-06 Impact factor: 2.607

3. Oligophrenia, cerebellar ataxia and cataract; the syndrome of Marinesco-Garland.

Authors: R C MACGILLIVRAY
Journal: Am J Ment Defic Date: 1957-04

4. An extremely rare recessive hereditary syndrome including cerebellar ataxia, oligophrenia, cataract, and other features.

Authors: H GARLAND; D MOORHOUSE
Journal: J Neurol Neurosurg Psychiatry Date: 1953-05 Impact factor: 10.154

8. Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia; a genetic and clinical investigation.

Authors: T SJOGREN
Journal: Confin Neurol Date: 1950

Arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones.

1. Cerebellar ataxia, congenital cataracts, and retarded somatic and mental maturation. Report of cases of Marinesco-Sjogren syndrome.

2. [Heredo ataxia, cataract and oligophrenia (Marinesco-Sjögren syndrome)].

3. Oligophrenia, cerebellar ataxia and cataract; the syndrome of Marinesco-Garland.

4. An extremely rare recessive hereditary syndrome including cerebellar ataxia, oligophrenia, cataract, and other features.

5. Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity.

6. Renal function and morphology in a girl with oculocerebrorenal syndrome.

7. [On the Marinesco-Sjogren syndrome. (Observations on 2 familial cases)].

8. Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia; a genetic and clinical investigation.

9. Lowe's syndrome.

10. Homocystinuria. A recently discovered cause of mental defect and cerebrovascular thrombosis.

1. Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance.