Schinzel-Giedion syndrome: a rare cause of psychomotor delay and refractory seizures

Schinzel-Giedion syndrome (SGS) is a rare genetic syndrome characterized by severe developmental delay, facial dysmorphism, seizures, and multiple congenital malformations. Affected children have increased risk of developing neuroepithelial brain tumors.We are reporting a case of a 20 months-old boy...

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Bibliografiske detaljer

Principais autores:	Gordana Kovačević, Ružica Kravljanac, Biljana Vučetić Tadić, Slavica Ostojić, Seung Woo Ryu
Format:	Artigo
Sprog:	Inglês
Udgivet:	Elsevier 2024-03-01
Serier:	Global Pediatrics
Fag:	Schinzel-Giedion syndrome facial dysmorphism severe developmental delay developmental and epileptic encephalopathies progressive brain atrophy
Online adgang:	http://www.sciencedirect.com/science/article/pii/S2667009723000908
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