Mitochondrial Factors and VACTERL Association-Related Congenital Malformations
نویسندگان
چکیده
منابع مشابه
Mitochondrial Factors and VACTERL Association-Related Congenital Malformations.
VACTERL/VATER association is a group of congenital malformations characterized by at least 3 of the following findings: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. To date, no unifying etiology for VACTERL/VATER association has been established, and there is strong evidence for causal heterogeneity. VACTERL/VATER associa...
متن کاملVACTERL Association
VACTERL association [3] is a term applied to a specific group of abnormalities involving structures derived from the mesoderm [4]. Although the defects of this disorder are clearly linked, VACTERL is called an association rather than a syndrome because the exact genetic cause is unknown. ?VACTERL? is an acronym, each letter standing for one of the defects associated with the condition: V for ve...
متن کاملVACTERL Association Complicated with Right-sided Congenital Diaphragmatic Hernia.
We describe a neonate with VACTERL association and right-sided congenital diaphragmatic hernia (CDH). Such coexistence is rare. The lack of symptoms during the early neonatal period, the absence of bowel loops herniated into the right thoracic cavity, and an unfinished surgery led to clinical and radiological diagnostic difficulties. Respiratory distress occurred when the patient was 2 months o...
متن کاملVACTERL Association
VACTERL association [3] is a term applied to a specific group of abnormalities involving structures derived from the mesoderm [4]. Although the defects of this disorder are clearly linked, VACTERL is called an association rather than a syndrome because the exact genetic cause is unknown. ?VACTERL? is an acronym, each letter standing for one of the defects associated with the condition: V for ve...
متن کاملVACTERL/VATER Association
VACTERL/VATER association is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. In addition to these core component features, patients may also have other congenital anomalies. Although diagnostic criteria vary, the incidence is estim...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Molecular Syndromology
سال: 2013
ISSN: 1661-8777,1661-8769
DOI: 10.1159/000346301