Sirenomelia: a new type, showing VACTERL association with Thomas syndrome and a review of literature.
Birth Defects Res A Clin Mol Teratol
; 97(3): 123-32, 2013 Mar.
Article
em En
| MEDLINE
| ID: mdl-23526679
ABSTRACT
Sirenomelia or "mermaid syndrome" is a rare congenital anomaly known since antiquity. This congenital anomaly is defined as a polymalformative syndrome that associates major muscle and skeleton abnormalities (unique lower limbs) with visceral abnormalities (unilateral or bilateral renal agenesis, anomalies of the abdominal vascularisation). This phenotype, typical of sirenomelia syndrome, may be more or less severe. The pathogenic mechanisms of this syndrome are still debated and its etiology remains unknown. We report here a new type of sirenomelia that we observed in a fetus belonging to the collection of the Department of Anatomy of Reims, which led us to perform a comprehensive review of the literature on the subject this type has never been reported and cannot be classified according to the Stocker and Heifetz classification. Moreover, this case also presents a VACTERL association with Thomas syndrome.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Congênitas
/
Anormalidades Múltiplas
/
Fenda Labial
/
Deformidades Congênitas dos Membros
/
Ectromelia
/
Cardiopatias Congênitas
/
Nefropatias
Tipo de estudo:
Incidence_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Humans
Idioma:
En
Revista:
Birth Defects Res A Clin Mol Teratol
Ano de publicação:
2013
Tipo de documento:
Article