CTNNB1 syndrome (CTNNB1-NDD) in a child with cerebral palsy: a case report

Autor:	G. S. Golosnaya, N. A. Ermolenko, O. N. Krasnorutskaya, V. L. Efimova, T. A. Larionova, M. D. Tysyachina
Jazyk:	ruština
Rok vydání:	2023
Předmět:	ctnnb1 ctnnb1-ndd cerebral palsy delayed motor and speech development strabismus microcephaly neonatal hypoxia birth asphyxia exudative vitreoretinopathy Neurology. Diseases of the nervous system RC346-429
Zdroj:	Русский журнал детской неврологии, Vol 18, Iss 1, Pp 46-51 (2023)
Druh dokumentu:	article
ISSN:	2073-8803 2412-9178
DOI:	10.17650/2073-8803-2023-18-1-46-51
Popis:	In this article, we report a case of CTNNB1 syndrome (CTNNB1-NDD) in a child with cerebral palsy and also provide a literature review on the problem. CTNNB1 syndrome is an exceedingly rare and poorly studied disorder, which makes it particularly interesting due the difficulties associated with its diagnosis and description of the disease phenotype, as well as highly polymorphic clinical manifestations. Verification of the diagnosis is important to determine the prognosis of a child with cerebral palsy and visual impairment, as well as for reproductive planning in the family.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/5acd7f06b81c4a38b4a32fd3b948992f Zobrazit plný text záznamu View record in DOAJ