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Monodactyly in a patient with CHARGE syndrome: An additional case report.
Serigatto, Henrique Regonaschi; Zechi-Ceide, Roseli Maria; Parizotto, Isabella; Kokitsu-Nakata, Nancy Mizue.
Afiliação
  • Serigatto HR; Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, São Paulo, Brazil.
  • Zechi-Ceide RM; Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, São Paulo, Brazil.
  • Parizotto I; Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, São Paulo, Brazil.
  • Kokitsu-Nakata NM; Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, São Paulo, Brazil.
Am J Med Genet A ; 194(6): e63561, 2024 06.
Article em En | MEDLINE | ID: mdl-38352994
ABSTRACT
CHARGE syndrome is a rare autosomal dominant syndrome characterized by multiple congenital anomalies including coloboma, heart defects, ear anomalies, and developmental delay, caused by pathogenic variants in the CHD7 gene. The discovery of the molecular basis of this syndrome increased the number of cases reported and expanded the phenotype and clinical variability. Limb anomalies are occasional clinical findings in this syndrome, present in about 30% of reported cases. The occurrence of limb anomalies in this syndrome suggests that it should be considered as part of the phenotypic spectrum. Here, we describe an individual with CHARGE syndrome presenting unilateral monodactyly.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / DNA Helicases / Síndrome CHARGE Limite: Female / Humans / Male Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / DNA Helicases / Síndrome CHARGE Limite: Female / Humans / Male Idioma: En Ano de publicação: 2024 Tipo de documento: Article