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At least 1,315 records · Page 73Linked to original sources
PubMed1992

Atresia coli inherited in Holstein cattle.

A mating plan was designed to test the genetic hypothesis that atresia coli is inherited as an autosomal recessive at a single locus with two alleles. Matings between 8 putative carrier sires and 56 putative carrier dams resulted in 59 normal and 8 atresia coli calves, which was not different from the expected number of 8.1 affected calves. One case of atresia coli was observed among 628 calves born concurrently in the herd. All of the affected calves born from planned and contemporary matings were inbred, and their dominance relationships with each other were greater than zero, which is complementary evidence of pairs of alleles in common among affected calves. In planned matings, 7 of the 39 pregnancies diagnosed during the first 40 d of gestation of putative carriers produced affected calves. In contemporary matings, for pregnancies diagnosed before d 41 of gestation, there were 1 affected and 295 normal calves. Atresia coli in Holstein calves was associated with putative carrier parents. Retrospective analysis of early pregnancy diagnosis in dams was inconclusive in evaluating the role of palpation on atresia coli in genetically predisposed calves.

Animals↗
PubMed1991

Autosomal dominant inheritance of abnormalities of the hands and feet with short palpebral fissures, variable microcephaly with learning disability, and oesophageal/duodenal atresia.

We report two families with an autosomal dominant syndrome of abnormalities of the hands and feet, short palpebral fissures, and variable microcephaly with learning disability. Between a third and a quarter of cases are born with oesophageal atresia, duodenal atresia, or both. Individual patients have hypoplastic thumbs or congenital heart disease. The phenotype of the syndrome reported here is similar to that observed in 13q22-qter deletion patients. However, chromosome analysis has not detected any structural abnormality in our patients.

Duodenal Obstruction↗
PubMed1988

Fetal jejunoileal atresia with persistent omphalomesenteric duct.

A case of fetal jejunoileal atresia in association with persistent omphalomesenteric duct is presented. The dilated stomach and proximal and distal duodenum produced a multiple bubble sign on the prenatal sonogram. The neonate underwent exploratory laparotomy, excision of the persistent omphalomesenteric duct, gastrotomy, and colostomy. Possible causes of jejunoileal atresia are presented.

Humans↗
PubMed1990

Rectal atresia: transanal, end-to-end, rectorectal anastomosis: a simplified, rational approach to management.

Transanal, end-to-end, rectorectal anastomosis (TERA) is a new technique for the surgical correction of rectal atresia. Hitherto performed abdominoperineal or sacroperineal procedures entailed major traumatizing surgery with an inherent risk of complications. The rationale of TERA is based on three factors: (1) the anorectal canal distal to the atresia is normally developed, as are the sphincteric muscles surrounding it; (2) the anorectum can be preoperatively dilated to allow a transanal anastomosis of good size; and (3) the atretic segment can be effectively "intussuscepted" into the anal canal, almost up to the anal verge, by an oversized metal bougie passed through the sigmoid colostomy. A midline sagittal incision over the metal bougie exposes the rectal pouch, which is mobilized from the surrounding muscle fibers, and a direct, end-to-end anastomosis is performed. This technique has been successfully used in two cases of rectal atresia having a gap between the two pouches.

Anastomosis, Surgical↗
PubMed1997

Ileal atresia with total colonic aganglionosis.

This is the 17th report of the case of an infant who had ileal atresia associated with Hirschsprung's disease, and the second with ganglion cells distal to the atresia. Experience suggests that Hirschsprung's disease should be suspected in all forms of bowel atresia.

Hirschsprung Disease↗
PubMed2004

Jejunal atresia in an infant with triple-X syndrome.

A 33-year-old woman presented at 31 weeks' gestation with polyhydramnios that required repeated amniodrainage. An antenatal scan at 32 weeks showed dilated fetal bowel loops, which were not confirmed on subsequent scans. The amniotic fluid karyotype confirmed 47,XXX. After birth, jejunal obstruction was confirmed. To our knowledge, this is the first report of an association of triple-X syndrome and jejunal atresia.

Adult↗
PubMedDate not supplied

[A liveborn infant with triploidy (69, XXX): report of one case].

Triploidy is not rare and present in about 1% of all recognized human pregnancies, although most of these pregnancies end in spontaneous abortion during the first trimester. Survival of the fetus up to 20 weeks or beyond is rare. Therefore, liveborn infants with triploidy are very rare. Here is a report on a female liveborn infant with triploidy (69,XXX), who was born to a 27-year-old healthy mother. The clinical features are growth retardation, head-to-body disproportion, wide posterior fontanelle, hypertelorism, micrognathia, bilateral pre-auricular polyps, syndactyly of left 3rd and 4th fingers, syndactyly of right 2nd and 3rd fingers and talipes equinovarus. The infant died 4 hours after birth. The autopsy revealed transposition of great vessels, ventricular septal defect, one lobe of left lung and 2 lobes of right lung and duodenal atresia.

Abnormalities, Multiple↗