Case of multivertebral anomalies, cloacal dysgenesis, and other anomalies presenting prenatally as cystic kidneys
- 1 April 1992
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 42 (6) , 761-765
- https://doi.org/10.1002/ajmg.1320420602
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.Keywords
This publication has 22 references indexed in Scilit:
- VACTERL with hydrocephalus: Further delineation of the syndrome(s)American Journal of Medical Genetics, 1989
- Second trimester prenatal diagnosis of the Jarcho-Levin syndromePrenatal Diagnosis, 1987
- Spondylocostal/spondylothoracic dysostosis: The clinical basis for prognosticating and genetic counselingAmerican Journal of Medical Genetics, 1986
- A case of single umbilical artery with various fetal anomalies: Correlations between prenatal ultrasonographic diagnosis and autopsyInternational Journal of Gynecology & Obstetrics, 1986
- Nonskeletal malformations in one of three siblings with Jarcho-Levin syndrome of vertebral anomaliesThe Journal of Pediatrics, 1983
- Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibshipAmerican Journal of Medical Genetics, 1981
- Urologic management in cloacal dysgenesisUrology, 1978
- Recessive spondylocostal dysostosis: Two new casesClinical Genetics, 1978
- A NEW SYNDROME OF DYSMORPHOGENESIS: IMPERFORATE‐ANUS ASSOCIATED WITH POLY‐OLIGODACTYLY AND SKELETAL (MAINLY VERTEBRAL) ANOMALIESActa Paediatrica, 1971
- A NEW POLYDACTYLY/IMPERFORATE-ANUS/ VERTEBRAL-ANOMALIES SYNDROME?The Lancet, 1968