Literature DB >> 9222974

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

S J Mitchell1, T Cole, D H Redford.   

Abstract

We report four cases of congenital diaphragmatic hernia occurring in two generations of a consanguineous Pakistani family. The affected subjects resembled no recognised genetic syndrome. This family provides further evidence for possible autosomal recessive inheritance of congenital diaphragmatic hernia in some cases.

Entities:  

Mesh：

Year:  1997        PMID： 9222974      PMCID： PMC1051006          DOI： 10.1136/jmg.34.7.601

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


  11 in total

1.  Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia.

Authors:  J P Fryns
Journal:  J Med Genet       Date:  1987-05       Impact factor: 6.318

2.  Unilateral agenesis of the diaphragm.

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

3.  Familial right thoracic stomach.

Authors:  B Hubert; W M Toyama
Journal:  Pediatrics       Date:  1987-03       Impact factor: 7.124

Review 4.  Fetal abdominal abnormalities associated with genetic syndromes.

Authors:  G I Hirata; A L Medearis; L D Platt
Journal:  Clin Perinatol       Date:  1990-09       Impact factor: 3.430

5.  Diaphragmatic defects in children of consanguineous parents.

Authors:  I Arad; G C Lijovetzky; R Starinsky; N Laufer; T Cohen
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

Review 6.  Familial congenital diaphragmatic hernia is an autosomal recessive variant.

Authors:  D C Hitch; J A Carson; E I Smith; D C Sarale; O M Rennert
Journal:  J Pediatr Surg       Date:  1989-09       Impact factor: 2.545

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

Authors:  T I Farag; M A Issa; E S Mahfouz
Journal:  J Med Genet       Date:  1989-12       Impact factor: 6.318

8.  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

9.  A family study of congenital diaphragmatic defects.

Authors:  A Czeizel; M Kovács
Journal:  Am J Med Genet       Date:  1985-05

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
View more
  4 in total

1.  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 2.  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.  Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias.

Authors:  Eric L Bogenschutz; Zac D Fox; Andrew Farrell; Julia Wynn; Barry Moore; Lan Yu; Gudrun Aspelund; Gabor Marth; Mark Yandell; Yufeng Shen; Wendy K Chung; Gabrielle Kardon
Journal:  HGG Adv       Date:  2020-08-25

4.  Familial tetrasomy 4q35.2 associated with congenital diaphragmatic hernia and unilateral renal agenesis: a case report.

Authors:  Thomas Bogs; Florian Kipfmüller; Nicolai Kohlschmidt; Ulrich Gembruch; Andreas Müller; Heiko Reutter
Journal:  J Med Case Rep       Date:  2016-03-30
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.