Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives.
Am J Med Genet A
; 185(2): 620-624, 2021 02.
Article
em En
| MEDLINE
| ID: mdl-33179409
ABSTRACT
Cenani Lenz syndrome is a rare autosomal recessive disorder associated with variable degree of limb malformations, dysmorphism, and renal agenesis. It is caused due to pathogenic variants in the LRP4 gene, which plays an important role in limb and renal development. Mutations in the APC gene have also been occasionally associated with CLS. The phenotypic spectrum ranges from mild to very severe perinatal lethal type depending on the type of variant. We report a pathogenic variant, c.2710 del T (p.Trp904GlyfsTer5) in theLRP4 gene, in a fetus with lethal Cenani Lenz syndrome with antenatal presentation of tetraphocomelia and symmetrical involvement of hands and feet.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Congênitas
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Deformidades Congênitas dos Membros
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Sindactilia
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Proteínas Relacionadas a Receptor de LDL
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Rim
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Nefropatias
Limite:
Female
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Humans
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Male
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Pregnancy
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Índia