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Duodenal atresia and stenosis
Published in Mark Davenport, James D. Geiger, Nigel J. Hall, Steven S. Rothenberg, Operative Pediatric Surgery, 2020
Afif N. Kulaylat, Colin G. DeLong, Simon Clarke, Robert E. Cilley
Trisomy 21, occurring in 25–40% of affected infants, and congenital heart disease must be suspected in all children with duodenal atresia. Duodenal atresia also occurs as part of the Feingold syndrome and Joubert syndrome and has been reported in Goldenhar syndrome and 47XXX. Concurrent malrotation and second intestinal atresias are gastrointestinal abnormalities that occur with increased frequency in patients with duodenal atresia. The utility of demonstrating distal bowel continuity is debated. Rarely, duodenal atresia has occurred in association with esophageal atresia, hereditary multiple atresias, and developmental abnormalities of the bile ducts (including choledochal cysts and biliary atresia).
The gastrointestinal tract
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Most cases of oesophageal atresia are combined with tracheo-oesophageal fistula, the incidence varying geographically between 1 and 4 per 10,000 live births. As many as 55% of cases have been found to be associated with other malformations, most notably rectal and duodenal atresia, diaphragmatic hernia, hypoplasia of the radius and renal agenesis, thus often forming part of the VATER (vertebrae, anus, trachea, oesophagus, renal) complex. Other relevant conditions include the CHARGE (coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities and ear abnormalities) syndrome, Feingold syndrome and Goldenhar syndrome (oculo-auriculo-vertebral [OAV] dysplasia). These syndromic cases are progressively becoming better defined, originally in clinical and now in molecular terms. Around 10% of cases are associated with chromosome abnormalities. Excluding syndromic and chromosomal cases, the recurrence risk to sibs of those with oesophageal atresia/tracheo-oesophageal malformation is generally very low: In one large series of 345 patients there was only one affected sib and in another study of 108 patients with 410 first-degree relatives there was no recurrence. A higher proportion of sibs may have some associated defects but, except when this is part of a specific syndrome, this should not be grounds for giving a higher risk. Risk figures for offspring of treated patients are now becoming available although numbers remain small: These risks also appear to be low, probably not more than 1%.
Esophageal atresia and tracheo-esophageal fistula
Published in Prem Puri, Newborn Surgery, 2017
Sporadic reports of familial cases of EA–TEF suggest a polygenic hereditary etiology. The best estimate of risk of recurrence for parents of a single affected child is 0.5%–2.0%, rising to 20% if another sibling is born with EA. The vertical transmission risk is 3%–4%.19 A 10% incidence of nonspecific chromosomal abnormalities (translocations, deletions, and duplications) is recorded. Edwards syndrome (trisomy 18) and Down’s (trisomy 21) are associated with the EA and TEF phenotype. Recognition of a syndrome suggestive of a major chromosomal abnormality in EA and TEF should prompt urgent involvement of a clinical geneticist before corrective surgery is undertaken. EA–TEF has also been described in association with Feingold syndrome (autosomal dominant), Holt–Oram syndrome, DiGeorge sequence, polysplenia, and in babies with Pierre Robin anomaly.19
A new perspective on the genetics of keratoconus: why have we not been more successful?
Published in Ophthalmic Genetics, 2018
Hanne Valgaeren, Carina Koppen, Guy Van Camp
Two variants in DOCK9, one in STK24 and one in IPO5 in the 13q32 locus, segregated with KC in an Ecuadorian family (65), and the c.2262A>C variant in DOCK9 leads in vitro to exon skipping (66), putatively inactivating the gene. Interestingly, a deletion of 13q31.1-q31.2 was identified in an individual with Feingold syndrome with KC as additional phenotype (67). This deletion encompasses miR17HG, which has been reported as a cause for Feingold syndrome (68), but is also partly overlapping with the linked KC locus initially reported by Czugala et al. (65), although it does not contain DOCK9 or STK24 (67). This suggests that DOCK9 most likely does not underlie KC in this patient with Feingold syndrome and that a mutation in another gene in the linked locus, potentially IPO5, might be the cause of KC in the Ecuadorian family.