Literature DB >> 144797

The prune belly anomaly: heterogeneity and superficial X-linkage mimicry.

V M Riccardi, C M Grum.   

Abstract

The genetic, clinical, and necropsy findings of 2 brothers with the prune belly anomaly are presented and the literature reviewed. The combined data emphasise the clinical and genetic heterogeneity of the disorder and show that in at least some instances a heritable component may be the primary insult. The most likely heritable explanation involves a two-step autosomal dominant mutation with sex-limited expression that partially mimics X-linkage.

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Year:  1977        PMID： 144797      PMCID： PMC1013581          DOI： 10.1136/jmg.14.4.266

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  24 in total

1.  Prune belly syndrome at the age of 37. Case report.

Authors:  J Asplund; J Laska
Journal:  Scand J Urol Nephrol       Date:  1975

2.  Congenital absence of the abdominal muscles with associated abnormalities of the genito-urinary tract.

Authors:  P ROBERTS
Journal:  Arch Dis Child       Date:  1956-06       Impact factor: 3.791

3.  Older paternal age and fresh gene mutation: data on additional disorders.

Authors:  K L Jones; D W Smith; M A Harvey; B D Hall; L Quan
Journal:  J Pediatr       Date:  1975-01       Impact factor: 4.406

4.  The triad syndrome: a composite anomaly of the abdominal wall, urinary system and testes.

Authors:  I N NUNN; F D STEPHENS
Journal:  J Urol       Date:  1961-12       Impact factor: 7.450

5.  The right-sided syndrome: congenital absence of the right testis, kidney, and rectus. Urologic diagnosis and treatment.

Authors:  J H Texter; G P Murphy
Journal:  Johns Hopkins Med J       Date:  1968-04

6.  Prune-belly syndrome. Clinical findings and survival.

Authors:  E C Burke; M H Shin; P P Kelalis
Journal:  Am J Dis Child       Date:  1969-06

7.  Twins with congenital deficiency of abdominal musculature.

Authors:  D S Petersen; L Fish; A S Cass
Journal:  J Urol       Date:  1972-04       Impact factor: 7.450

8.  The prune belly syndrome. Report of 20 cases and description of a lethal variant.

Authors:  L W Rogers; P T Ostrow
Journal:  J Pediatr       Date:  1973-11       Impact factor: 4.406

9.  Abdominal musculature deficiency syndrome prune belly.

Authors:  K J Welch; G P Kraney
Journal:  J Urol       Date:  1974-05       Impact factor: 7.450

10.  [Observations on the Prune-Belly syndrome].

Authors:  P Welling; R A Pfeiffer; W Kosenow; J A Bliesener; K V Jones; A Haarmeyer
Journal:  Z Kinderheilkd       Date:  1975
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  4 in total

1.  Genetic basis of prune belly syndrome: screening for HNF1β gene.

Authors:  Candace F Granberg; Steven M Harrison; Daniel Dajusta; Shaohua Zhang; Sachin Hajarnis; Peter Igarashi; Linda A Baker
Journal:  J Urol       Date:  2011-11-23       Impact factor: 7.450

2.  Prune belly syndrome--report of 47 cases.

Authors:  C R Woodhouse; P G Ransley; D Innes-Williams
Journal:  Arch Dis Child       Date:  1982-11       Impact factor: 3.791

3.  Copy number variations in a population with prune belly syndrome.

Authors:  Nida S Iqbal; Thomas A Jascur; Steven Harrison; Catherine Chen; Michelle K Arevalo; Daniel Wong; Emma Sanchez; Gwen Grimsby; Kathleen Wilson; Linda A Baker
Journal:  Am J Med Genet A       Date:  2018-10-04       Impact factor: 2.802

4.  Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene.

Authors:  Nida S Iqbal; Thomas A Jascur; Steven M Harrison; Angelena B Edwards; Luke T Smith; Erin S Choi; Michelle K Arevalo; Catherine Chen; Shaohua Zhang; Adam J Kern; Angela E Scheuerle; Emma J Sanchez; Chao Xing; Linda A Baker
Journal:  BMC Med Genet       Date:  2020-02-21       Impact factor: 2.103
  4 in total

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