Pre- and post-natal growth in two sisters with 3-M syndrome.
Eur J Med Genet
; 59(4): 232-6, 2016 Apr.
Article
em En
| MEDLINE
| ID: mdl-26850509
3-M syndrome (OMIM #273750) is a rare autosomal recessive growth disorder characterized by severe pre- and post-natal growth restriction, associated with minor skeletal abnormalities and dysmorphisms. Although the 3-M syndrome is well known as a primordial dwarfism, descriptions of the prenatal growth are missing. We report a family with variable phenotypic features of 3-M syndrome and we describe the prenatal and postnatal growth pattern of two affected sisters with a novel homozygous CUL7 mutation (c.3173-1G>C), showing a pre- and post-natal growth deficiency and a normal cranial circumference.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Coluna Vertebral
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Proteínas Culina
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Nanismo
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Deficiência Intelectual
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Hipotonia Muscular
Tipo de estudo:
Prognostic_studies
Limite:
Female
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Humans
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Infant
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Newborn
Idioma:
En
Revista:
Eur J Med Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Itália