Two cases of the caudal duplication anomaly including a discordant monozygotic twin.
Am J Med Genet
; 112(4): 390-3, 2002 Nov 01.
Article
em En
| MEDLINE
| ID: mdl-12376942
ABSTRACT
We present two unrelated patients with various duplications in the caudal region. One patient presented with a duplication of the distal spine from L4, left double ureter, duplication of the vagina and cervix, and duplication of the distal colon. The second patient was diagnosed with a duplication of the colon, bladder, vagina and uterus. The first patient had an unaffected monozygotic twin sister. Dominguez et al. [1993 Am J Dis Child 1471048-1052] presented six similar cases, and introduced the name "caudal duplication syndrome." The pathogenesis of the caudal duplication anomaly is unclear. The possibility of a polytopic primary developmental field defect or a disruptive sequence are discussed. On the other hand, somatic or germline mutations in certain developmental genes could be involved, as illustrated by the mouse mutations disorganisation and fused. DNA-analysis of the AXIN1 gene, the human homologue of the gene responsible for fused, performed in our first patient, did not show any apparent pathogenic mutation.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas Repressoras
/
Gêmeos Monozigóticos
/
Anormalidades Urogenitais
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Anormalidades Múltiplas
/
Vértebras Lombares
Limite:
Child
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Female
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Humans
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Infant
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
2002
Tipo de documento:
Article
País de afiliação:
Holanda