Association Of Congenital Diaphragmatic Hernia Research Articles

Association of congenital diaphragmatic hernia with extrapulmonary sequestration: A case report

Pulmonary sequestration (PS) is a non-functioning lesion of lung tissue which lacks communication with the tracheobronchial tree. The incidence of congenital diaphragmatic hernia (CDH) is about 1 in 2500 newborns. While the association of PS with CDH is as high as 30%–40%, the prognosis of their coexistence is unknown. Awareness of the association between pulmonary sequestration with CDH and recognition of the sequestration at the time of the surgery for CDH repair, will prevent the need of a later second operation for a mediastinal mass.

Congenital diaphragmatic hernia with hepatic heterotopia

Abstract The association of congenital diaphragmatic hernia with hepatic heterotopia is a rare one that has been scarcely reported. We present a case of a female neonate with an antenatally diagnosed left congenital diaphragmatic hernia. Intra-operatively she was found to have ectopic liver tissue within the hernia sac. This case report discusses the presentation, classification, and significance of this rare association.

Congenital diaphragmatic hernia and maternal dietary nutrient pathways and diet quality.

We examined the association of congenital diaphragmatic hernia (CDH) with maternal dietary intake, using semi-Bayes hierarchical models and principal components analysis to consider intake of nutrients that contribute to one-carbon metabolism and oxidative stress pathways, and a diet quality index. We included data on 825 cases and 11,108 nonmalformed controls born from 1997-2011 whose mother participated in the National Birth Defects Prevention Study (NBDPS), a multisite, population-based case-control study. Exposure data were from maternal telephone interviews, which included a food frequency questionnaire. Adjusted odds ratios (aOR) and 95% confidence intervals (CI) were generated from logistic regression models that included nutritional factors as continuous variables and were adjusted for maternal energy intake, race-ethnicity, parity, and vitamin supplement intake. In the semi-Bayes hierarchical model that included all nutrients and confounders, riboflavin was the only nutrient for which the 95% CI excluded 1.0; the aOR for a 1 SD increase was 0.83. The aORs were 0.79 (95% CI 0.69-0.91) for the one-carbon metabolism pathway score, 0.90 (95% CI 0.80-1.01) for oxidative stress, and 0.85 (95% CI 0.77-0.93) for diet quality (the aORs correspond to a 1 SD increase). The findings from this study provide some support for the hypothesis that better prepregnancy nutrition is associated with reduced risk for CDH. These results provide etiologic clues but should be interpreted with caution given the novelty of the investigation.

Association of Congenital Diaphragmatic Hernia in a Baby with Patau Syndrome

No abstract available

Congenital diaphragmatic hernia in 22q11.2 deletion syndrome.

We report the important association of congenital diaphragmatic hernia (CDH) and 22q11.2 deletion syndrome (22q11.2DS). The prevalence of CDH in our cohort of patients with 22q11.2DS is 0.8% (10/1246), which is greater than in the general population (0.025%). This observation suggests that 22q11.2DS should be considered when a child or fetus presents with CDH, in particular when other clinical findings associated with the 22q11.2DS are present, such as congenital cardiac defects. Furthermore, this finding may lead to the identification of an additional locus for diaphragmatic hernia in the general population. © 2016 Wiley Periodicals, Inc.

Nasopharyngeal teratoma, congenital diaphragmatic hernia and Dandy–Walker malformation – a yet uncharacterized syndrome

An association of congenital diaphragmatic hernia, dandy walker malformation and nasopharyngeal teratoma is very rare. Here, we report a fourth case with this association where chromosomal microarray and whole exome sequencing (WES) was performed to understand the underlying genetic basis. Findings of few variants especially a novel variation in HIRA provided some insights. An association of congenital diaphragmatic hernia, dandy walker malformation and nasopharyngeal teratoma is very rare. Here, we report a fourth case with this association where chromosomal microarray and whole exome sequencing (WES) was performed to understand the underlying genetic basis. Findings of few variants especially a novel variation in HIRA provided some insights.

Congenital Diaphragmatic Hernia in a Case of Patau Syndrome: A Rare Association

Congenital DiaphragmaticHernia (CDH) occurs in 5-10% associated with chromosomal abnormalities like, Pallister Killian syndrome, Trisomy 18, and certain deletions. Association of CDH with trisomy 13 (Patau syndromes) is very rare. Here, we report such an unusual association, where surgical repair was done, but eventually the case succumbed as a result of multiple fatal co-morbidities.

Extralobar sequestration of lung associated with congenital diaphragmatic hernia and malrotation of gut.

Extralobar sequestration of lung is a rare congenital malformation frequently diagnosed during repair of congenital diaphragmatic hernia. However, the combined association of congenital diaphragmatic hernia with both pulmonary sequestration and malrotation of gut is rare. We report a case of a 1-year-old girl with extralobar sequestration of lung and malrotation of gut detected during the repair of diaphragmatic hernia. The histopathological examination of the sequestered lobe revealed dilated bronchioles, alveolar ducts and alveoli along with dilated subpleural and peribronchiolar lymphatics and areas of type II congenital pulmonary airway malformation.

Association of congenital diaphragmatic hernia and hiatal hernia with tetrasomy 18p

We report a case of a newborn with tetrasomy 18p who presents with both a congenital diaphragmatic hernia and a giant hiatal hernia. While these two hernias have been rarely reported together in the newborn period, this represents the first association with the chromosomal abnormality of tetrasomy 18p. • The association of congenital diaphragmatic hernia and hiatal hernia together has not been previously reported in a case of tetrasomy 18p. • An abdominal surgical approach may be favored for diagnosing and repairing both of these defects simultaneously.

Congenital Diaphragmatic Hernia Associated with Esophageal Atresia: Incidence, Outcomes, and Determinants of Mortality

Congenital diaphragmatic hernia (CDH) and esophageal atresia (EA) are fairly common congenital anomalies, but the occurrence of both is exceedingly rare, with only anecdotal cases reported in the English literature. The primary objective of the current study is to assess the incidence and outcomes of CDH/EA using the Congenital Diaphragmatic Hernia Study Group registry. The Congenital Diaphragmatic Hernia Study Group registry was queried from January 2000 through August 2011. Patients with CDH/EA were identified. The primary end point was survival and the secondary end point was seeking to identify variables that might explain variances in outcomes. During the study period, 4,888 patients were reported to the Congenital Diaphragmatic Hernia Study Group registry. Twenty-three (0.5%) had an associated EA, with an overall survival significantly lower than the registry mean (26.1% vs 70.3%; p < 0.001). These patients had significantly lower birth weights (1.8 vs 2.94 kg), more cardiac abnormalities, and more chromosomal abnormalities (p < 0.001). Only 6 of the 23 CDH/EA patients had a CDH repair. In addition, the cohort had significantly fewer primary CDH repairs (4.3% vs 39.3%; p < 0.001). Logistic regression analysis identified birth weight, cardiac abnormalities, repair, and surfactant administration to be significantly associated with adverse outcomes. Esophageal atresia was the only variable not independently associated with survival. In patients with both CDH and EA, survival is significantly lower than other patients with CDH, but not uniformly lethal, therefore, intent to treat is a viable approach. Although the association of CDH with EA has a substantial impact on survival, it is the presence of low birth weight, cardiac and chromosomal abnormalities, surfactant use, and larger defects--and not the mere presence of EA--that influences the outcomes of this unique cohort.

A Rare Association of Congenital Diaphragmatic Hernia with Lower Esophageal Atresia and Perforation

Congenital diaphragmatic hernia is known to be associated with esophageal atresia, which is a rare association. We report a rare occurrence of congenital diaphragmatic hernia and lower esophageal atresia.

A 6-year-old child with Fryns syndrome: Further delineation of the natural history of the condition in survivors

Fryns syndrome (FS) is a rare early lethal autosomal recessive disorder. The diagnosis is clinical since the underlying molecular defect is currently unknown. We report on a 6-year-old male child displaying an association of congenital diaphragmatic hernia (CDH), lung hypoplasia, corneal clouding and coarse face in the absence of distal digital/nail hypoplasia. Based on the recently published diagnostic guidelines, our patient fits the narrow definition of FS. Only a minority of FS patients surviving the neonatal period have been reported, thus limiting the recognition of the infantile phenotype. We compared the features observed in our proband with those of 10 published survivors. Neurological impairment ranging from mild to severe was present in all patients, while seizures manifested in one third of them, often in association with central nervous system malformations. Other characteristic features included central-paracentral corneal clouding, coarsening of the facial traits, gastroesophageal reflux, Hirschsprung disease, intestinal malrotation, hydronephrosis and vescico-ureteral reflux. These manifestations are representative of the natural history of this condition and should also be searched for in FS survivors.

Association of congenital diaphragmatic hernia with limb-reduction defects.

The pathogenesis of congenital diaphragmatic hernia (CDH), a severe birth defect, is not well understood; however, both developmental genes and environmental factors have been suggested to be involved. CDH is frequently associated with malformations of other structures, such as limbs, whose embryogenesis is better understood. An examination of the co-occurrence of developmental defects may provide clues as to the origin and timing of the insult to the diaphragm and limbs. Our focus was on CDH-associated limb-reduction defects (LRDs). For this descriptive study, we reviewed the medical records of infants with a posterolateral (Bochdalek) CDH and an associated LRD among 146 patients from the Sophia Children's Hospital, and among 810 infants and 36 stillbirths from the California Birth Defects Monitoring Program (CBDMP). In the hospital group, 14 patients (10%) had an associated limb defect, of which about one-third were LRDs (of these, most were of a nonsevere type, such as hypoplasia of fingers). In the registry group, a limb defect was found in 162 cases (18.5%), 18 of which were mostly severe LRD (usually of the upper extremities). Additional congenital anomalies were observed in all CDH-LRD cases in both groups. In the registry group, 77.8% of LRDs were either bilateral or ipsilateral, and were mostly preaxial, suggesting an early embryological insult affecting both precursor anlages. These results, from large numbers of cases, support the notion of a developmental association between CDH and LRD, as has been observed in several knockout mice. Future analyses of candidate genes from patients with CDH and LRD may elucidate this developmental association in humans.

Congenital diaphragmatic hernia and hydrops: A lethal association?

Background/Purpose: Nonimmune hydrops in the fetus is a finding that often portends death. The association and prognosis of fetuses with congenital diaphragmatic hernia (CDH) and hydrops is not known. Methods: A retrospective review of all prenatally diagnosed cases and referrals of CDH was performed. Variables analyzed included gestational age at diagnosis and delivery, side of hernia, presence of associated anomalies and hydrops, and neonatal outcome. Results: Since 1993, 474 prenatal referrals for CDH have been made. One hundred seventy-five were evaluated; 15 fetuses had hydrops (9%). Five patients had CDH, hydrops, and associated lethal anomalies. In the remaining 10 patients, 6 of the diaphragmatic defects were right-sided and 4 were left-sided. All except one had a major portion of the liver herniated into the chest. Six fetuses had prenatal intervention. Five neonates died shortly after birth. There were 5 long-term survivors; all received prenatal intervention. Conclusions: The association of CDH and hydrops is rare but often results in fatality. Hydrops appears to be associated with liver in the hernia, right-sided lesions, and lethal anomalies. Fetal intervention can be performed successfully in patients with CDH and hydrops, and may improve long-term survival rate in this group. J Pediatr Surg 37:1678-1680. Copyright 2002, Elsevier Science (USA). All rights reserved.

Epidemiological analysis of the association of congenital diaphragmatic hernia with upper-limb deficiencies: a primary polytopic developmental field defect.

McCredie and Reid [(1978): J Pediatr 92: 762-765] described an association of diaphragmatic hernia and upper limb deficiencies. Lerone et al. [(1992): Am J Med Genet 44:827-829] recently described a new case with this combination. We present an epidemiological study using two analytic methods with data from the Spanish Collaborative Study of Congenital Malformations (ECEMC). The results support the suggestion that the concurrence of these two congenital anomalies constitutes a polytopic primary developmental field defect.

Congenital diaphragmatic hernia and associated anomalies: Their incidence, identification, and impact on prognosis

The general concept of the association of congenital diaphragmatic hernia (CDH) with other anomalies has been well described. This study is aimed at assessing the distribution of the associated anomalies (AA) by organ system, their influence on prognosis, and the practical signs that should prompt a diagnostic search. One hundred and sixty-six high-risk patients with CDH (symptomatic within the first 6 hours of life) were treated in this institution in the past decade. Sixty-five patients (39.2%) were found to have one or more AA, and 101 had isolated CDH. Of patients with anomalies, cardiac (excluding patent foramen ovale and patent ductus arteriosus) was the most frequent type of AA (63%). Hypoplastic heart syndrome was the most common defect. Many patients had multiple AA. For purposes of analysis, the patients were divided into three groups: isolated CDH, cardiac anomalies, and all other anomalies. The groups were compared with respect to several common clinical and laboratory variables, as well as survival. The frequency and timing of antenatal diagnosis were also noted. The analysis led to the following conclusions. (1) AA are present in more than one third of high-risk patients with CDH; in this group, cardiac lesions predominate. (2) High-risk CDH infants with AA have significantly lower APGAR scores and a lower BPDP o 2 (best postductal P o 2 before ECMO or surgery) than those with isolated CDH. This is even more evident in the group with cardiac AA. In such patients, a careful search for an undetected AA, especially cardiac, is warranted. (3) Antenatal diagnosis of CDH, especially before 25 weeks' gestation, is a risk factor for the presence of life-threatening AA (omphalocele, cardiac, central nervous system, and chromosomal AA). (4) High-risk CDH infants with cardiac AA are unsalvageable with current therapeutic strategies, including ECMO. Infants in this group must have the cardiac anomaly addressed along with the CDH if the abysmal survival rate (zero) is to change.

Letter: Association of congenital diaphragmatic hernia and 13 pairs of ribs.

In response to the recently described association of congenital diaphragmatic hernia and 13 pairs of ribs (Kelvin and Starer, 1975), I wish to point out that the 13 pairs of ribs associated with congenital oesophageal atresia (Bond-Taylor, Starer and Atwell, 1973) were accompanied by 13 dorsal (thoracic) vertebrae.