Multiple Ipsilateral Congenital Diaphragmatic Pathologies: Rarities to Consider

Akel, Samir; Nasr, Wail Fayez

doi:10.1055/s-2001-15492

Cited by 17 publications

(7 citation statements)

References 7 publications

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“…Some diaphragmatic hernias have “sacs” which are thought to represent focal thinning of the diaphragmatic musculature. Thus the terminology “sac” hernia and eventration are poorly defined, and these entities may represent a continuum. A mixture of hernia types can occur as well, such as a typical posterolateral (Bochdalek) defect in one diaphragmatic leaflet, combined with an eventration in the contralateral leaflet or another portion of the ipsilateral leaflet [Akel and Nasr, 2001]. Although such a combination of defects is rarely seen, their true prevalence may not be known possibly due to underreporting.…”

Section: Classification Of Cdhmentioning

confidence: 99%

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

Pober

2007

American J of Med Genetics Pt C

171

175

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Congenital diaphragmatic hernia (CDH) is a common and well-studied birth defect. The etiology of most cases remains unknown but increasing evidence points to genetic causation. The data supporting genetic etiologies which are detailed below include the association of CDH with recurring chromosome abnormalities, the existence of CDH-multiplex families, and the co-occurrence of CDH with additional congenital malformations.

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Section: Classification Of Cdhmentioning

confidence: 99%

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

Pober

2007

American J of Med Genetics Pt C

171

175

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“…It is still debated whether different types of diaphragmatic defects (e.g., a Bochdalek hernia vs. diaphragmatic eventration) are genetically distinct. Pathological studies have shown the presence of different types of diaphragmatic defects (Bochdalek hernias vs. eventration) in the same diaphragm leaflet or in different leaflets of the same diaphragm in isolated CDH [Akel and Nasr, 2001]. However, several studies of murine models of CDH involving loss of gene function have shown that the type of hernia associated with each mouse mutant is anatomically consistent.…”

Section: Introductionmentioning

confidence: 99%

Population‐based analysis of left‐ and right‐sided diaphragmatic hernias demonstrates different frequencies of selected additional anomalies

Slavotinek

Warmerdam²,

Lin

et al. 2007

American J of Med Genetics Pt A

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Congenital diaphragmatic hernia (CDH) is a common birth defect that can be subdivided into several different types depending on the anatomical structures affected. Several studies have demonstrated that right-sided CDH (R-CDH) and left-sided CDH (L-CDH) in humans are associated with different clinical presentations and outcomes. We hypothesized that R-CDH and L-CDH are phenotypically and pathogenically distinct, and that the frequency of associated anomalies would differ among patients with R-CDH compared to patients with L-CDH. Using population-based data from ongoing studies in the California Birth Defects Monitoring Program (CBDMP), we compared 146 CDH cases, 38 with R-CDH (26%) and 108 with L-CDH (74%). The frequencies of atrial septal defect (1/38 R-CDH and 20/108 L-CDH cases; P = 0.015), bilateral pulmonary hypoplasia (22/108 L-CDH cases and 15/38 R-CDH cases; P = 0.029), abnormal skull or facial shape (17/108 L-CDH patients and 1/38 R-CDH cases; P = 0.043), assorted digital anomalies excluding syndactyly, polydactyly or absence of a digit (13/108 L-CDH patients and 0/38 R-CDH patients; P = 0.021) and assorted limb anomalies excluding limb reduction defects (18/108 L-CDH patients and 0.38 R-CDH patients; P = 0.004) all showed a statistically significant difference in frequency between R- and L-CDH patients. This descriptive epidemiological study using newborn surveillance data represents the largest comparison of right and left-sided CDH patients so far performed. Several anomalies as listed above were noted to be different in frequency between R- and L-CDH patients, although the interpretation of the significant variability in the frequency of these anomalies is not yet established and the findings require replication. Birth defects monitoring programs can provide the interface for epidemiology and clinical genetics, which in this case, may generate hypotheses to establish the pathogenesis of CDH laterality. (c) 2007 Wiley-Liss, Inc.

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“…Multiple diaphragm defects on the ipsilateral side have been reported previously in 6 patients [4]. Two patients were diagnosed as adults and had multiple defects in the central tendon of the right diaphragm.…”

Section: Discussionmentioning

confidence: 91%

Synchronous ipsilateral Bochdalek and Morgagni diaphragmatic hernias: a case report

Jelin

Kim

Nathan

et al. 2011

Journal of Pediatric Surgery

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Multiple Ipsilateral Congenital Diaphragmatic Pathologies: Rarities to Consider

Cited by 17 publications

References 7 publications

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

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

Population‐based analysis of left‐ and right‐sided diaphragmatic hernias demonstrates different frequencies of selected additional anomalies

Synchronous ipsilateral Bochdalek and Morgagni diaphragmatic hernias: a case report

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