Congenital para esophageal hernia: A 10 year experience from Saudi Arabia

Jetley, Nishith Kumar; Alassiri, Ali H.; Awadi, Dawood Al

doi:10.1007/s12098-009-0084-3

Cited by 17 publications

(9 citation statements)

References 14 publications

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“…These findings combined with the known pathogenic FBN1 variant allowed the diagnosis of MFS to be established. FBN1 variants and MFS have been reported in association with congenital diaphragmatic hernia (CDH), which was present in our patient (Petersons et al 2003; Faivre et al 2009; Jetley et al 2009; Beck et al 2015). However, this characteristic is not part of the revised Ghent diagnostic criteria or systemic score.…”

Section: Resultssupporting

confidence: 49%

Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype

Zastrow

Zornio

Dries

et al. 2016

Cold Spring Harb Mol Case Stud

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Here we describe a patient who presented with a history of congenital diaphragmatic hernia, inguinal hernia, and recurrent umbilical hernia. She also has joint laxity, hypotonia, and dysmorphic features. A unifying diagnosis was not identified based on her clinical phenotype. As part of her evaluation through the Undiagnosed Diseases Network, trio whole-exome sequencing was performed. Pathogenic variants in FBN1 and TRPS1 were identified as causing two distinct autosomal dominant conditions, each with de novo inheritance. Fibrillin 1 (FBN1) mutations are associated with Marfan syndrome and a spectrum of similar phenotypes. TRPS1 mutations are associated with trichorhinophalangeal syndrome types I and III. Features of both conditions are evident in the patient reported here. Discrepant features of the conditions (e.g., stature) and the young age of the patient may have made a clinical diagnosis more difficult in the absence of exome-wide genetic testing.

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Section: Resultssupporting

confidence: 49%

Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype

Zastrow

Zornio

Dries

et al. 2016

Cold Spring Harb Mol Case Stud

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“…In contrast, at least 42% (8/19) of the reported FBN1 ‐related diaphragmatic defects identified in the prenatal/neonatal period were paraesophageal hernias. This suggests that FBN1 mutations are associated with an unusual pattern of diaphragm defects and that identification of a congenital paraesophageal hernia should prompt a search for additional features that might suggest a diagnosis of Marfan syndrome [Jetley et al, ].…”

Section: Discussionmentioning

confidence: 99%

“…Since a diagnosis of Marfan syndrome has only been described in two other cases of familial CDH [Petersons et al, ; Jetley et al, ], we investigated an oligogenic hypothesis by examining ES data for deleterious sequence changes in other CDH‐related genes that may have also contributed to the development of CDH in this family. This search revealed putatively deleterious sequence changes in four other CDH‐related genes— FREM1 , DES , PAX3 , and MET .…”

Section: Discussionmentioning

confidence: 99%

FBN1 contributing to familial congenital diaphragmatic hernia

Beck

Campeau

Jhangiani

et al. 2015

American J of Med Genetics Pt A

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Congenital diaphragmatic hernia (CDH) is a relatively common, life-threatening birth defect. We present a family with recurrent CDH—paraesophageal and central—for whom exome sequencing (ES) revealed a frameshift mutation (c.4969_4970insA, p. Ile1657Asnfs*30) in the fibrillin 1 gene (FBN1) that causes Marfan syndrome. A diagnosis of Marfan syndrome had not been considered previously in this family. However, a review of the literature demonstrated that FBN1 mutations have an unusual pattern of CDH in which paraesophageal hernias are particularly common. Subsequent clinical evaluations revealed evidence for ectopia lentis in affected family members supporting a clinical diagnosis of Marfan syndrome. Since only two other cases of familial CDH have been described in association with FBN1 mutations, we investigated an oligogenic hypothesis by examining ES data for deleterious sequence changes in other CDH-related genes. This search revealed putatively deleterious sequence changes in four other genes that have been shown to cause diaphragm defects in humans and/or mice—FREM1, DES, PAX3 and MET. It is unclear whether these changes, alone or in aggregate, are contributing to the development of CDH in this family. However, their individual contribution is likely to be small compared to that of the frameshift mutation in FBN1. We conclude that ES can be used to identify both major and minor genetic factors that may contribute to CDH. These results also suggest that ES should be considered in the diagnostic evaluation of individuals and families with CDH, particularly when other diagnostic modalities have failed to reveal a molecular etiology.

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“…These hernias sometimes present asymptomatically, indicating the possibility of spontaneous intermittent reduction [37]. Congenital paraesophageal hiatal hernias should be considered in a child with vomiting or frequent chest infections [38]. Upon careful inspection, evidence of a paraesophageal hernia in a neonate may be seen on a chest radiograph.…”

Section: Diagnosismentioning

confidence: 99%

“…The hernia appears as a gastric shadow on the lower chest, alongside the esophagus and separate from the pulmonary shadow. Conclusive diagnosis can be made using upper gastrointestinal series radiography (esophagus, stomach, duodenum, with a contrast medium) [38,57]. Radiographically, paraesophageal hernia presentation in the neonatal period can be confused with esophageal atresia, or the presence of an esophageal web [57,71].…”

Section: Diagnosismentioning

confidence: 99%

Hiatal hernias

et al. 2011

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Esophageal hiatal hernias have been reported to affect anywhere from 10 to 50% of the population. Hiatal hernias are characterized by a protrusion of the stomach into the thoracic cavity through a widening of the right crus of the diaphragm. There are four types of esophageal hiatal hernias: sliding (type I), paraesophageal (type II), and combined (type III), which include elements of types I and II, and giant paraesophageal (type IV). Each type may present with different symptoms and complications. The potential severity of symptoms necessitates proper and prompt diagnosis. Diagnosis is established with the use of barium swallow on chest radiographs. Treatment for sliding hernias involves laparoscopic fundoplication. The aim of our paper is to review the extensive literature regarding hiatal hernias in an effort to enhance awareness and diagnosis of this pathology.

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Congenital para esophageal hernia: A 10 year experience from Saudi Arabia

Cited by 17 publications

References 14 publications

Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype

Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype

FBN1 contributing to familial congenital diaphragmatic hernia

Hiatal hernias

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