RARE DISEASE CORNELIA DE LANGE SYNDROME: DIAGNOSTIC CRITERIA. CASE FROM  PRACTICE

Please use this identifier to cite or link to this item: http://repo.tma.uz/xmlui/handle/1/2668

Title:	RARE DISEASE CORNELIA DE LANGE SYNDROME: DIAGNOSTIC CRITERIA. CASE FROM PRACTICE
Authors:	Saidkhonova A.M., Mirrakhimova M.Kh.
Keywords:	Cornelia de Lange syndrome, clinical ob servation, children, multiple malformations, pneumonia, Amsterdam dwarfism, Brahman de Lange syndrome
Issue Date:	2025
Publisher:	O'zbekiston, Toshkent
Series/Report no.:	UDK;616-008.6-056.7
Abstract:	Cornelia de Lange syndrome is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symp toms. This article describes the the clinical observation of a 6-year-old patient treated with the diagnosis of Corne lius de Lange syndrome in the multidisciplinary clinic of the Tashkent Medical Academy.
URI:	http://repo.tma.uz/xmlui/handle/1/2668
ISSN:	2181-7812
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