Neural defects in Say-Gerald (VATER) syndrome.
The Say-Gerald (VATER) syndrome consists of vertebral defects, anal atresia, tracheoesophageal fistula, radial dysplasia and renal defects. 2 children with Say-Gerald (VATER) syndrome were autopsied: the first child was found to have hydrocephalus, aqueductal stenosis and probable craniosynostosis, and the second child had hypoplasia of the nerve roots and anterior and posterior horns of the spinal cord, corresponding to the hypoplastic limb. It is suggested that the Say-Gerald syndrome is a multifocal developmental disorder in which central nervous system anomalies may be found. The children with Say-Gerald syndrome should have a complete neurological examination in order to rule out a potentially treatable central nervous system defect.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001006:Anus, Imperforate / Q000175:diagnosis; D001921:Brain / Q000002:abnormalities; D002490:Central Nervous System / Q000002:abnormalities*; D002574:Cervical Vertebrae / Q000002:abnormalities; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities; D008297:Male; D013116:Spinal Cord / Q000002:abnormalities; D013126:Spinal Nerve Roots / Q000002:abnormalities; D013577:Syndrome