Two‐generation Transmission of Oesophageal Atresia With Tracheo‐oesophageal Fistula

Erichsen, Gunna; Hauge, Mark D.; Madsen, Claus B.; Roed-Petersen, K; SøSndergaard, T.

doi:10.1111/j.1651-2227.1981.tb05550.x

Cited by 6 publications

(3 citation statements)

References 9 publications

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“…1). There are only a few reports in the literature describing multiple cases of EA/TEF within a family (Grieve and McDermott, 1939;Sloan and Haight, 1956;Hausmann et al, 1957;Engel et al, 1970;Erichsen et al, 1981;Van Staey et al, 1984;Wieczorek et al, 2007). In most cases, the affected family members displayed the same type of EA/TEF.…”

Section: Discussionmentioning

confidence: 93%

Genetic and environmental factors in the etiology of esophageal atresia and/or tracheoesophageal fistula: An overview of the current concepts

Felix¹,

Jong²,

Torfs³

et al. 2009

Birth Defects Research

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Esophageal atresia and/or tracheoesophageal fistula (EA/TEF) are severe congenital anomalies. Although recent years have brought significant improvement in clinical treatment, our understanding of the etiology of these defects is lagging. Many genes and genetic pathways have been implicated in the development of EA/TEF, but only a few genes have been shown to be involved in humans, in animals, or in both. Extrapolating data from animal models to humans is not always straightforward. Environmental factors may also carry a risk, but the mechanisms are yet to be elucidated. This review gives an overview of the current state of knowledge about both genetic and environmental risk factors in the etiology of EA/TEF.

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Section: Discussionmentioning

confidence: 93%

Genetic and environmental factors in the etiology of esophageal atresia and/or tracheoesophageal fistula: An overview of the current concepts

Felix¹,

Jong²,

Torfs³

et al. 2009

Birth Defects Research

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“…Oesophageal atresia (OA) with or without tracheooesophageal fistula (TOF) affects 1 in 3,000 newborn infants. Cause and pathogenesis of these birth defects remain unknown; several familial cases have been reported [Engel et al, 1970;Dennis et al, 1973;Erichsen et al, 1981;Pletcher et al, 1991;McMullen et al, 1996]. In attempts to unravel the cause, a number of epidemiological studies have been carried out.…”

Section: Introductionmentioning

confidence: 99%

Oesophageal atresia, related malformations, and medical problems: A family study

et al. 1999

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Oesophageal atresia (OA) and tracheo-oesophageal fistula (TOF) are life-threatening malformations of generally undefined cause. Previous reports of familial cases suggest a genetic contribution. The pattern of inheritance appears non-Mendelian, i.e., multifactorial. Individuals with OA/TOF often have other malformations and medical problems. The aim of this study was to determine the association in OA/TOF cases and healthy control subjects of associated malformations, midline defects, and medical conditions. We also investigate the relationships of these conditions in the relatives of the cases and controls. The results show that infants with OA/TOF frequently have VACTERL anomalies (vertebral, 17%; anal, 12%; cardiac, 20%; renal, 16%; limb, 10%) and other midline defects (cleft lip and palate, 2%; sacral dysgenesis, 2%; urogenital anomalies, 5%). The following medical problems were also reported: oesophageal dysmotility, 21%; gastro-oesophageal reflux, 22%; chest infections, 6%; and autonomic dysfunction, 0.5%. The first-degree relatives of children with OA are much more likely to have one of the aforementioned malformations or medical conditions when compared with the control group: one or more VACTERL anomalies (P < 0.01), gastro-oesophageal reflux (P < 0.05), recurrent respiratory infections (P < 0.05), and autonomic dysfunction (P < 0.001). The more distant relatives also show an increased incidence of such problems although in this case the data must be viewed with caution. The results confirm that the associated malformations and related medical problems occur significantly more frequently in the relatives of individuals with OA/TOF. These families may prove valuable for linkage analysis in an attempt to determine the genetics of OA/TOF.

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“…2,4,5 In 1970 Engel et al, firstly reported the occurrence of oesophegeal atresia in both mother and child. 6,7 Seventy six familial cases are recorded in the literature up to 1984, and few cases in the last twenty years. 4 We report here our first case of oesophegeal atresia with distal tracheo-oesophegeal fistula in a female child born to a woman who underwent s successful primary repair of oesophegeal atresia of same type in our hospital.…”

mentioning

confidence: 99%

Familial Esophageal Atresia

El-Nabulsi

Carachi

2009

Scott Med J

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The population incidence of oesophageal atresia is 1 in 3000 live birth. Most cases are sporadic but familial cases have been reported. The etiology of oesophageal atresia is multifactorial pathogenic mechanism, in which environmental and polygenic factors contribute to the development of the anomaly. Only 6-7% of cases have abnormal karyotype on chromosomal analysis. When a family history of oesophageal atresia exist, the parents should be offered genetic counseling. Antenatal screening by detailed ultrasound scans which should be done at expert centers. After birth the pediatrician should role out an oesophageal atresia by the passage of a nasogastric tube.

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Two‐generation Transmission of Oesophageal Atresia With Tracheo‐oesophageal Fistula

Cited by 6 publications

References 9 publications

Genetic and environmental factors in the etiology of esophageal atresia and/or tracheoesophageal fistula: An overview of the current concepts

Genetic and environmental factors in the etiology of esophageal atresia and/or tracheoesophageal fistula: An overview of the current concepts

Oesophageal atresia, related malformations, and medical problems: A family study

Familial Esophageal Atresia

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