| Literature DB >> 1554010 |
M M Murr1, M H Waziri, R L Schelper, M Abu-Youself.
Abstract
We describe a newborn boy on whom prenatal ultrasonography demonstrated intrauterine growth retardation, multiple vertebral anomalies, cystic kidneys, and oligohydramnios. Autopsy findings included multiple vertebral anomalies, cloacal dysgenesis (imperforate anus, vesicorectal fistula, and bilateral renal dysplasia), sacral absence, single umbilical artery, pulmonary hypoplasia, scoliosis, and hexadactyly of the left thumb. Although our case resembles a previously described case, a definitive diagnosis could not be made. The differential diagnosis included a variant of spondylocostal dysostosis and the VATER association.Entities:
Mesh:
Year: 1992 PMID: 1554010 DOI: 10.1002/ajmg.1320420602
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299