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

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Abstract

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.

About the authors

G. S. Golosnaya

N. N. Burdenko Voronezh State Medical University

Author for correspondence.
Email: ggolosnaya@yandex.ru

Galina Stanislavovna Golosnaya, Department of Neurology

10 Studencheskaya St., Voronezh 394036

Russian Federation

N. A. Ermolenko

N. N. Burdenko Voronezh State Medical University

Email: fake@neicon.ru
ORCID iD: 0000-0001-7197-6009

Department of Neurology

10 Studencheskaya St., Voronezh 394036

Russian Federation

O. N. Krasnorutskaya

N. N. Burdenko Voronezh State Medical University

Email: fake@neicon.ru
ORCID iD: 0000-0003-4796-7334

Department of Polyclinic Pediatrics

10 Studencheskaya St., Voronezh 394036

Russian Federation

V. L. Efimova

A. I. Herzen Russian State Pedagogical University

Email: fake@neicon.ru
ORCID iD: 0000-0001-7029-9317

Department of Age Psychology and Family Pedagogy

48 Naberezhnaya Reki Moyki, Saint Petersburg 191186

Russian Federation

T. A. Larionova

V. V. Vinogradov City Clinical Hospital, Moscow Healthcare Department

Email: fake@neicon.ru
ORCID iD: 0000-0002-8739-7498

Build. 2, 61 Vavilova St., Moscow 117292

Russian Federation

M. D. Tysyachina

Medical Center «Consultative and diagnostic epileptological care», “Epihelp” clinic

Email: fake@neicon.ru
ORCID iD: 0009-0003-1327-9522

Build. 2, 23 Novocheremushkinskaya St., Moscow 117218

Russian Federation

References

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