Achondrogenesis type II (Langer-Saldino syndrome) at a newborn: clinical case

Автор: Chernenkov Y.V., Nechaev V.N., Stasova Y.V., Tereshenko V.A.

Журнал: Саратовский научно-медицинский журнал @ssmj

Рубрика: Педиатрия

Статья в выпуске: 3 т.11, 2015 года.

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The aim of the article is to present clinical experience of conducting the patient with a genetic syndrome of Langer — Saldino in branch of resuscitation and intensive therapy of newborns of Perinatal Center of Saratov. It is necessary to notice that the described pathology is a rare autosomal dominant disease shown by plural developmental anomalies and determines great attention from the practical point of view. The given syndrome concerns mortality diseases leading to lethal outcomes on early terms of prenatal development, or in the nearest neonatal period from respiratory insufficiency.

Ахондрогенез ii типа, achondrogenesis ii type, ген col2a1, gene col2a1, newborn, langer — saldino syndrome

Короткий адрес: https://sciup.org/14918140

IDR: 14918140

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