Literature DB >> 2614799

Discordant, non-syndromic, congenital diaphragmatic defects in sibs.

T I Farag1, M A Issa, E S Mahfouz.   

Abstract

We report an Arab sibship of two brothers with non-syndromic, congenital diaphragmatic defects (CDD). The first had an extensive, left, Bochdalek-type hernia and the second hemidiaphragmatic agenesis; these were verified by surgical exploration and necropsy respectively. The parents are healthy second cousins. Other reported discordant cases of CDD are briefly reviewed.

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Year:  1989        PMID： 2614799      PMCID： PMC1015762          DOI： 10.1136/jmg.26.12.781

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


  13 in total

1.  Herniation through congenital diaphragmatic defects.

Authors:  J A BINGHAM
Journal:  Br J Surg       Date:  1959-07       Impact factor: 6.939

2.  Bilateral congenital diaphragmatic defects in two siblings.

Authors:  M P Thomas; L M Stern; L L Morris
Journal:  J Pediatr Surg       Date:  1976-06       Impact factor: 2.545

3.  Unilateral agenesis of the diaphragm.

Authors:  E Passarge; H Halsey; J German
Journal:  Humangenetik       Date:  1968

4.  Unilateral agenesis of the diaphragm.

Authors:  L P ten Kate; G J Anders
Journal:  Humangenetik       Date:  1970

5.  Two sibs with bilateral diaphragmatic defect.

Authors:  E Schubert-Staudacher; H Jauch
Journal:  Clin Genet       Date:  1984-11       Impact factor: 4.438

6.  Familial occurrence of congenital diaphragmatic defect in three families.

Authors:  A Gencík; H Moser; A Gencíkova; B Kehrer
Journal:  Helv Paediatr Acta       Date:  1982-06

7.  Familial congenital diaphragmatic defects: aspects of etiology, prenatal diagnosis, and treatment.

Authors:  R Norio; H Kääriäinen; J Rapola; R Herva; M Kekomäki
Journal:  Am J Med Genet       Date:  1984-02

8.  Diaphragmatic hernia in Avon.

Authors:  T J David; V M Parker; C A Illingworth
Journal:  J Med Genet       Date:  1980-04       Impact factor: 6.318

Review 9.  Familial congenital diaphragmatic defect: review and conclusions.

Authors:  G Wolff
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

10.  Familial congenital diaphragmatic hernia: prenatal diagnostic approach and analysis of twelve families.

Authors:  J P Crane
Journal:  Clin Genet       Date:  1979-10       Impact factor: 4.438
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  3 in total

1.  Congenital diaphragmatic hernia with probable autosomal recessive inheritance in an extended consanguineous Pakistani pedigree.

Authors:  S J Mitchell; T Cole; D H Redford
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

2.  Infants with Bochdalek diaphragmatic hernia: sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program.

Authors:  Barbara R Pober; Angela Lin; Meaghan Russell; Kate G Ackerman; Sharmila Chakravorty; Bernarda Strauss; Marie Noel Westgate; Jay Wilson; Patricia K Donahoe; Lewis B Holmes
Journal:  Am J Med Genet A       Date:  2005-10-01       Impact factor: 2.802

Review 3.  Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH.

Authors:  Barbara R Pober
Journal:  Am J Med Genet C Semin Med Genet       Date:  2007-05-15       Impact factor: 3.908
  3 in total

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