Sirenomelia and VACTERL association in the offspring of a woman with diabetes
| Autor: | S Cappellacci, Paola Grammatico, Francesco Binni, Giovanna Scassellati Sforzolini, Marco Castori, Evelina Silvestri |
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| Rok vydání: | 2010 |
| Předmět: |
Adult
Male medicine.medical_specialty Offspring Ectromelia Miscarriage Fatal Outcome Fetus Pregnancy Internal medicine Diabetes mellitus Genetics medicine Genetic predisposition Humans Abnormalities Multiple Genetics (clinical) Obstetrics business.industry Infant Newborn medicine.disease VACTERL association Radiography Diabetes Gestational Endocrinology Sirenomelia Female business blastogenesis developmental field defect diabetes diabetic embryopathy parsimony sirenomelia vacterl association |
| Zdroj: | American journal of medical genetics. Part A. (7) |
| ISSN: | 1552-4833 |
| Popis: | Sirenomelia and VACTERL association are defects of blastogenesis of unknown cause. Although they appear clinically distinct, some epidemiological and experimental studies suggest a common pathogenetic mechanism. We report on the reproductive history of a 28-year-old obese, diabetic mother who had three pregnancies. The first resulted in the birth of a sirenomelic child, the second in a miscarriage, while the third was terminated for fetal malformations, diagnosed post-mortem as VACTERL association. This observation supports the relationship between sirenomelia and VACTERL, which probably represent the two ends of the same phenotypic spectrum. Their occurrence in the same sibship also indicates a possible common cause. The coexistence with maternal diabetes seems more than a chance occurrence and the constellation of malformations observed in the present family may be explained as the pleiotropic effect of the same teratogenic agent interacting with genetic predisposition to diabetes and/or obesity. |
| Databáze: | OpenAIRE |
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