Significance of foetal autopsy in diagnosis of VACTERL association
نویسندگان
چکیده
VACTERL association occurs in 1 10000- 40000 live births and is associated with vertebral defects, anal atresia, cardiac malformations, tracheoesophageal fistula, renal dysplasia limb defects. A 19-week-old male foetus antenatal diagnosis of foetal hydronephrosis on ultrasound the left kidney was medically terminated brought for autopsy. No other malformation reported scan. On autopsy, facial abnormalities, upper lower coronal clefts imperforate anus a two vesselumbilical cord were found. Both environmental genetic factors are considered to be responsible this association. The present case illustrates importance autopsy making definitive missed sonographic findings like atresia absence upper- lower-limb bones.
منابع مشابه
First Trimester Diagnosis of VACTERL Association
VACTERL association (OMIM 192350) is a non-random combination of multiple congenital malformations including vertebral, anal, cardiac, tracheoesophageal, renal and limb anomalies. The wide spectrum of defects suggests the occurrence of defective development during early embryogenesis. The authors report a case of a complex polymalformative association detected by ultrasound in the first trimest...
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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...
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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...
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ژورنال
عنوان ژورنال: European journal of anatomy
سال: 2023
ISSN: ['1136-4890', '2340-311X']
DOI: https://doi.org/10.52083/winx3037