title: VACTERL-H associated with central hypothyroidism: a case report.
abstract: The VACTERL-H syndrome is a rare combination of vertebral anomalies, anal atresia, congenital heart defects, tracheo-esophageal fistula, abnormalities of kidneys and limb anomalies together with hydrocephalus. This condition is recognized as a hereditary entity with poor prognosis. We present a newborn weighing 3400 g, born by cesarean section to a 27 years old mother who had had an irregular antenatal follow-up. The patient had severe hydrocephalus, proximal esophageal atresia and distal tracheoesophageal fistula, gastric outlet obstruction, imperforated anus and recto-urethral fistula, patent ductus arterious, a bifid scrotum, a vertebral defect, sacral dimple and central hypothyroidism. The patient had no limb defects. The association of central hypothyroidism and VACTERL-H has previously not been reported.
authors.affiliation: Department of Neonatology, University of Kirikkale, Faculty of Medicine, Kirikkale, Turkey.
authors.forename: D
authors.initials: D
authors.lastname: Aliefendioglu
authors.forename: G
authors.initials: G
authors.lastname: Bademci
authors.forename: S
authors.initials: S
authors.lastname: Keskil
authors.forename: S
authors.initials: S
authors.lastname: Somuncu
authors.forename: E
authors.initials: E
authors.lastname: Misirlioglu
authors.forename: A M
authors.initials: AM
authors.lastname: Cakmak
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001003:Anal Canal / Q000002:abnormalities; D036861:Delivery, Obstetric; D004933:Esophageal Atresia / Q000235:genetics; D004947:Esophagus / Q000002:abnormalities / Q000000981:diagnostic imaging; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D007037:Hypothyroidism / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011859:Radiography; D012611:Scrotum / Q000002:abnormalities; D013577:Syndrome