Temporal bone findings in VATER syndrome.
The temporal bone findings of a patient with VATER syndrome are reported. The VATER syndrome is a nonrandom association of anomalies including vertebral, anal, tracheoesophageal, radial, and renal defects. This patient had multiple congenital anomalies: tracheal agenesis with associated laryngoesophageal cleft and tracheoesophageal fistula, tetralogy of Fallot, single umbilical artery, and imperforate anus with cloaca. To our knowledge, there have been no reports of the temporal bone findings in the VATER syndrome. Our patient had anomalous configuration of lateral semicircular canal and an abnormally high location of the utricle and saccule. The VATER syndrome seems to be due to faulty mesodermal development during the first five weeks of gestation, which, according to the findings reported here, can also involve the temporal bones as well.
D000015:Abnormalities, Multiple / Q000473:pathology*; D001006:Anus, Imperforate / Q000473:pathology; D004423:Ear / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome; D013701:Temporal Bone / Q000473:pathology*; D013771:Tetralogy of Fallot / Q000473:pathology; D014132:Trachea / Q000002:abnormalities; D014469:Umbilical Arteries / Q000002:abnormalities