DEVELOPMENTAL DELAY IN CHILDHOOD CATARACT: A CAVEAT MARINESCO-SJÖGREN SYNDROME

Autor:	Nutan Kamath, Rathika D. Shenoy, R V Deepthi, Sumana J Kamath
Rok vydání:	2014
Předmět:	Pediatrics medicine.medical_specialty Pathology Muscle biopsy genetic structures medicine.diagnostic_test business.industry Marinesco–Sjögren syndrome medicine.disease Childhood cataract eye diseases medicine Presentation (obstetrics) business Cerebellar hypoplasia Psychomotor delay Early onset
Zdroj:	Journal of Health and Allied Sciences NU. :121-123
ISSN:	2582-4953 2582-4287
DOI:	10.1055/s-0040-1703818
Popis:	We report on a child with Marinesco-Sjögren Syndrome, a rare autosomal recessive disorder characterised by early onset cataract, psychomotor delay, cerebellar hypoplasia and myopathy. The presentation, neuro-imaging and muscle biopsy features are discussed.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::4ee8e6f139f5804877cb8c9f9deae7bc https://doi.org/10.1055/s-0040-1703818 Zobrazit plný text záznamu