Modern View on the Problem of Idiopathic Toe Walking

Pomarino, David; Емелина, А. А.; Rostásy, Kevin

doi:10.24110/0031-403x-2020-99-2-230-235

Pediatria

2020

DOI: 10.24110/0031-403x-2020-99-2-230-235

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Modern View on the Problem of Idiopathic Toe Walking

David Pomarino¹,

А. А. Емелина²,

Kevin Rostásy³

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Mutation in the CREBBP Gene in the Girl with Toe Walking Syndrome: Clinical Case

Pomarino

Трен

et al. 2021

Vopr. sovr. pediatr.

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Background. Pathogenic variants of the CREBBP gene have been revealed in patients with Rubinstein–Taybi and Menke–Hennekam syndromes, however, the toe walking symptom was not mentioned in these pathologies.Clinical Case Description. The pathogenic nucleotide variant c.5600G>A in heterozygous state in the CREBBP gene was revealed in our 9-year-old female patient with refractory toe walking and developmental speech delay. There were no abnormalities typical for Rubinstein–Taybi syndrome, but there were several signs of Menke–Hennekam syndrome.Conclusion. The genetic anomaly associated with toe walking is described. This observation allows us to critically relate to the hypothesis about the idiopathic genesis of this form of gait disorder at the absence of obvious neurological or orthopedic causes of its development.

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Mutation in the CREBBP Gene in the Girl with Toe Walking Syndrome: Clinical Case

Pomarino

Трен

et al. 2021

Vopr. sovr. pediatr.

Self Cite

View full text Add to dashboard Cite

show abstract

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Modern View on the Problem of Idiopathic Toe Walking

Cited by 1 publication

References 0 publications

Mutation in the CREBBP Gene in the Girl with Toe Walking Syndrome: Clinical Case

Mutation in the CREBBP Gene in the Girl with Toe Walking Syndrome: Clinical Case

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