Posterolateral (Bochdalek's) Diaphragmatic Hernia in Sisters

Pollack, Louis D.; Hall, Judith G.

doi:10.1001/archpedi.1979.02130110094019

Cited by 14 publications

(12 citation statements)

References 11 publications

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“…Although the vast majority of individuals have a negative family history, sibling recurrences of isolated CDH are documented (3,(32)(33)(34)(35)(36)(37)(38)(39). However, it is not completely possible to exclude the presence of CDH1 in some of these cases due to limited physical examination and/or diagnostic workup.…”

Section: Clustering Of Isolated Cdh In Kindredsmentioning

confidence: 99%

Genetic aspects of human congenital diaphragmatic hernia

Pober

2008

Clinical Genetics

104

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Congenital diaphragmatic hernia (CDH) is a common major malformation affecting 1/3000-1/4000 births, which continues to be associated with significant perinatal mortality. Much current research is focused on elucidating the genetics and pathophysiology contributing to CDH to develop more effective therapies. The latest data suggest that many cases of CDH are genetically determined and also indicate that CDH is etiologically heterogeneous. The present review will provide a brief summary of diaphragm development and model organism work most relevant to human CDH and will primarily describe important human phenotypes associated with CDH and also provide recommendations for diagnostic evaluation of a fetus or infant with CDH.

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Section: Clustering Of Isolated Cdh In Kindredsmentioning

confidence: 99%

Genetic aspects of human congenital diaphragmatic hernia

Pober

2008

Clinical Genetics

104

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“…Multiplex families with CDH-Numerous multiplex families with either isolated or complex CDH have been published [Butler and Claireaux, 1962;Welch and Cooke, 1962;Scott and Patterson, 1966;Passarge et al, 1968;ten Kate and Anders, 1970;Feingold, 1971;Harberg et al, 1976;Thomas et al, 1976;Crane, 1979;David et al, 1979;Pollack and Hall, 1979;Arad et al, 1980;Wolff, 1980;Gencik et al, 1982;Norio et al, 1984;Czeizel and Kovacs, 1985;Lipson and Williams, 1985;Toriello et al, 1985Toriello et al, , 1986Bocian et al, 1986;Farag et al, 1989;Hitch et al, 1989;Carmi et al, 1990;Frey et al, 1991;Sripathi and Beasley, 1992;Narayan et al, 1993;Farag et al, 1994;Gibbs et al, 1997;Mitchell et al, 1997;Kufeji and Crabbe, 1999;Manouvrier-Hanu et al, 2000]. Several of these families are consanguinous, making it likely that a single mutant gene is responsible for their disorder [Arad et al, 1980;Norio et al, 1984;Farag et al, 1989Farag et al, , 1994, though multifactorial inheritance cannot be ruled out as an explanation for familial clustering.…”

Section: Further Evidence That Cdh Has Genetic Determinantsmentioning

confidence: 99%

Infants with Bochdalek diaphragmatic hernia: Sibling precurrence and monozygotic twin discordance in a hospital‐based malformation surveillance program

Pober

Lin

Russell

et al. 2005

American J of Med Genetics Pt A

100

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Congenital diaphragmatic hernia (CDH) is a common and often devastating birth defect. In order to learn more about possible genetic causes, we reviewed and classified 203 cases of the Bochdalek hernia type identified through the Brigham and Women's Hospital (BWH) Active Malformation Surveillance Program over a 28-year period. Phenotypically, 55% of the cases had isolated CDH, and 45% had complex CDH defined as CDH in association with additional major malformations or as part of a syndrome. When classified according to likely etiology, 17% had a Recognized Genetic etiology for their CDH, while the remaining 83% had No Apparent Genetic etiology. Detailed analysis using this largest cohort of consecutively collected cases of CDH showed low precurrence among siblings. Additionally, there was no concordance for CDH among five monozygotic twin pairs. These findings, in conjunction with previous reports of de novo dominant mutations in patients with CDH, suggest that new mutations may be an important mechanism responsible for CDH. The twin data also raise the possibility that epigenetic abnormalities contribute to the development of CDH.

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“…Norio et a1 [ 19841 used similar reasoning and, in spite of having found an additional example of consanguinity and a new family with multiple affected sibs, concluded in favor of multifactorial inheritance. Pollack and Hall [1979] considered that rare cases may be inherited in an autosomal recessive or polygenic manner and suggested an overall rate of 3 % for the recurrence of any diaphragmatic anomaly after the birth of a child with a posterolatera1 defect. GenEik et a1 [1982] considered the recurrence risk to be only slightly increased over the background incidence of 0.54 per 1,OOO.…”

Section: Odfcmentioning

confidence: 99%

Familial diaphragmatic defects. Early prenatal diagnosis and evidence for major gene inheritance

et al. 1986

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Congenital diaphragmatic defect (CDD) is a relatively common malformation and results in neonatal death in over 50% of affected infants [Hamson and de Lorimier, 19811. Although most cases are sporadic, familial aggregation occurs, and controversy exists as to whether this is a "multifactorial" or autosomal recessive trait. Statistical genetic analysis of affected families has not been reported.We report on two new families with multiple occurrence of CDD. In one of the families, the lesion was detected in the fetus by ultrasound at 14 weeks, the earliest reported prenatal diagnosis of CDD.Segregation analysis of our data and of 17 additional multiplex families from the literature led to the conclusion that the autosomal recessive hypothesis cannot be rejected. Multifactorial determination is rejected by the data. The analyses are complicated by several factors, including phenotypic variability, probable genetic heterogeneity, and inadequate description of defects and studies of first-degree relatives. Recurrence risk figures based on a model of multifactorial determination give an underestimate of risk in multiplex families and should not be used until the major gene model is rejected or heterogeneity is clearly demonstrated.

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Posterolateral (Bochdalek's) Diaphragmatic Hernia in Sisters

Cited by 14 publications

References 11 publications

Genetic aspects of human congenital diaphragmatic hernia

Genetic aspects of human congenital diaphragmatic hernia

Infants with Bochdalek diaphragmatic hernia: Sibling precurrence and monozygotic twin discordance in a hospital‐based malformation surveillance program

Familial diaphragmatic defects. Early prenatal diagnosis and evidence for major gene inheritance

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