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 a...

Congenital malformations are important causes of perinatal mortality and morbidity, and around 4% of children are diagnosed with a malformation during their first year of life. Despite improved surgical treatment, several malformations are associated with lifelong sequelae requiring specialized health care. Important issues for these families are the etiology, prognosis and recurrence risk of t...

H-type tracheoesophageal fistulas (H-TEF) often are located in the low cervical/high thoracic region where determination of the most appropriate surgical approach is difficult. When it can provide adequate exposure, a cervical incision is preferred because of the likelihood of decreased morbidity. A child with VACTERL association presented with recurrent respiratory problems. Esophagogram showe...

Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the SALL1 gene. Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred syndrome, Baller-Gerold syndrome, and cat eye syndrome. Structural vertebral abnormalities, hypoplasia of the thumb, and radial bone abnormalities, which are not usually associated...

using criteria put forth by Verloes [1], patients with CHARGE syndrome show varying phenotypes that considerably overlap those of other syndromes such as Kallmann syndrome, VACTERL association (vertebral anomalies, anal atresia, cardiac defects, tracheoesophageal fistula, esophageal atresia, renal anomalies, and limb defects), and 22q11.2 deletion syndrome [3,6,7]. Chromosome 22q11.2 deletion i...