Literature DB >> 1554010

Case of multivertebral anomalies, cloacal dysgenesis, and other anomalies presenting prenatally as cystic kidneys.

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.

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Year:  1992        PMID: 1554010     DOI: 10.1002/ajmg.1320420602

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

1.  Chromosome 18q22.2-->qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects.

Authors:  S B Dowton; A V Hing; V Sheen-Kaniecki; M S Watson
Journal:  J Med Genet       Date:  1997-05       Impact factor: 6.318

2.  Jarcho-Levin syndrome.

Authors:  M L Kulkarni; Sarfaraz R Navaz; H N Vani; K S Manjunath; Deepa Matani
Journal:  Indian J Pediatr       Date:  2006-03       Impact factor: 5.319

3.  A rare case of fetal spondylocostal dysostosis - prenatal diagnosis and perinatal care in a patient with multiple large leiomyomas.

Authors:  M Cirstoiu; O Munteanu; O Bodean; C Cirstoiu
Journal:  J Med Life       Date:  2013-03-25
  3 in total

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