Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 1 de 1
Filter
Add more filters










Database
Language
Publication year range
1.
Birth Defects Res A Clin Mol Teratol ; 97(3): 123-32, 2013 Mar.
Article in English | 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.


Subject(s)
Abnormalities, Multiple , Cleft Lip , Congenital Abnormalities , Ectromelia , Heart Defects, Congenital , Kidney Diseases/congenital , Limb Deformities, Congenital , Abnormalities, Multiple/genetics , Anal Canal/abnormalities , Bone and Bones/abnormalities , Cleft Lip/genetics , Congenital Abnormalities/genetics , Ectromelia/epidemiology , Ectromelia/genetics , Esophagus/abnormalities , Heart Defects, Congenital/genetics , Humans , Incidence , Kidney/abnormalities , Kidney Diseases/genetics , Muscle, Skeletal/abnormalities , Palate/abnormalities , Spine/abnormalities , Trachea/abnormalities
SELECTION OF CITATIONS
SEARCH DETAIL
...