Familial Esophageal Atresia

Abstract

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.

Second study on the recurrence risk of isolated esophageal atresia with or without trachea‐esophageal fistula among first‐degree relatives: No evidence for increased risk of recurrence of EA/TEF or for malformations of the VATER/VACTERL association spectrum

“…Presumed environmental factors during pregnancy are fetal intoxication in maternal diabetes (Martinez‐Frias, ; Genevieve et al, ), and hypo‐perfusion during early embryonic development in twin gestations (Davies and Gimenez‐Scherer, ; Schulz et al, ). A genetic background is suggested by findings in murine knockout models (Chiang et al, ; Litingtung et al, ; Ramalho‐Santos et al, ); the existence of multiply affected families (van Staey et al, ; Pletcher et al, ; McMullen et al, ; El‐Nabulsi and Carachi, ); higher concordance rates among monozygotic compared with dizygotic twins (Davies and Gimenez‐Scherer, ); the presence in 6 to 10% of patients of chromosomal aberrations (Depaepe et al, ; Robert et al, ; Torfs et al, ; Shaw‐Smith, ; Genevieve et al, ); and the fact that EA/TEF is a feature of various genetic syndromes (Shaw‐Smith, ; Jong et al, ).…”

Accelerated higher-dimensional cosmology with a traversable static wormhole and a big rip

“…It should be mentioned that models with variation of lambda and G simultaneously have been discussed in literature [22,23]. Within the structure of extra-dimensions, the decaying of the effective cosmological constant plays a vital role [24][25][26][27][28][29][30][31][32]. Many ansatzs of the decaying cosmological constant have been studied in the literature.…”