Literature DB >> 7491205

Prenatal diagnosis of glomerulocystic kidney disease in short-rib polydactyly syndrome type II, Majewski type.

H Montemarano1, D I Bulas, R Chandra, C Tifft.   

Abstract

An 18-year-old gravida 1 para 0 female was presented at 35 weeks' gestation with severe oligohydramnios. Sonography revealed a fetus with hydrops, bilaterally enlarged echogenic kidneys, and short extremities. The infant died at birth and autopsy was compatible with short-rib polydactyly syndrome type II, Majewski type. Renal histology was consistent with glomerulocystic disease.

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Year:  1995        PMID: 7491205     DOI: 10.1007/bf02019070

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  6 in total

1.  The thoracic asphyxiant dystrophy and renal disease.

Authors:  R C Herdman; L O Langer
Journal:  Am J Dis Child       Date:  1968-08

2.  Prenatal ultrasonic diagnosis of short-rib polydactyly syndrome (SRPS) type III: a case report and a proposed approach to the diagnosis of SRPS and related conditions.

Authors:  I Meizner; J Bar-Ziv
Journal:  J Clin Ultrasound       Date:  1985-05       Impact factor: 0.910

3.  Prenatal sonographic diagnosis of short rib-polydactyly syndrome type II, Majewski type.

Authors:  B R Benacerraf
Journal:  J Ultrasound Med       Date:  1993-09       Impact factor: 2.153

4.  Clinicopathologic spectrum of glomerulocystic kidneys: report of two cases and a brief review of literature.

Authors:  V V Joshi; J Kasznica
Journal:  Pediatr Pathol       Date:  1984

5.  Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases.

Authors:  R Bernstein; J Isdale; M Pinto; J Du Toit Zaaijman; T Jenkins
Journal:  J Med Genet       Date:  1985-02       Impact factor: 6.318

6.  Short rib-polydactyly syndrome, Majewski type.

Authors:  H Chen; S S Yang; E Gonzalez; M Fowler; A Al Saadi
Journal:  Am J Med Genet       Date:  1980
  6 in total
  3 in total

Review 1.  A system-based approach to the genetic etiologies of non-immune hydrops fetalis.

Authors:  Anne H Mardy; Shilpa P Chetty; Mary E Norton; Teresa N Sparks
Journal:  Prenat Diagn       Date:  2019-06-26       Impact factor: 3.050

Review 2.  Perinatal assessment of hereditary cystic renal diseases: the contribution of sonography.

Authors:  Fred E Avni; Laurent Garel; Marie Cassart; Anne Massez; Daniele Eurin; François Didier; Michelle Hall; Rita L Teele
Journal:  Pediatr Radiol       Date:  2006-02-04

Review 3.  Glomerulocystic kidney disease.

Authors:  John J Bissler; Brian J Siroky; Hong Yin
Journal:  Pediatr Nephrol       Date:  2010-01-21       Impact factor: 3.714

  3 in total

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