CTNNB1 gene mutation associated with neurodevelopmental disorder, microcephaly, and persistence of bilateral hyperplastic primary vitreous: A case report and literature review.
Arch Soc Esp Oftalmol (Engl Ed)
; 97(1): 44-47, 2022 Jan.
Article
em En
| MEDLINE
| ID: mdl-35027145
The most cases of persistence hyperplastic primary vitreous (PHPV) are unilateral and sporadic, however, bilateral presentation could be present in a small number of patients, in whom other genetic diseases must be ruled out. We describe a case of a 2 months child with bilateral persistence hyperplastic primary vitreous confirmed by ultrasound. In addition, with neurodevelopmental defects, microcephaly, facial dimorphism, axial hypotonia, and without brain abnormalities on MRI, in whom a de novo mutation of the CTNNB1 gene was found during the genetic study, which explains the findings.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Vítreo Primário Hiperplásico Persistente
/
Transtornos do Neurodesenvolvimento
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Microcefalia
Tipo de estudo:
Risk_factors_studies
Limite:
Child
/
Humans
Idioma:
En
Revista:
Arch Soc Esp Oftalmol (Engl Ed)
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Colômbia
País de publicação:
Espanha