β Scribed by Torfs, Claudine P.; Christianson, Roberta E.
No coin nor oath required. For personal study only.
In a population of close to 2.5 million infants born from 1983 to 1993 registered in the California Birth Defects Monitoring Program, we compared the prevalence of structural birth defects among 2,894 infants with Down syndrome (DS) with that of infants without DS. Among 61 defects uniformly ascertained in affected and unaffected infants, 45 were significantly more common in DS, with atrioventricular canal (risk ratio = 1,009), duodenal atresia (risk ratio = 265), and annular pancreas (risk ratio = 430) being the most common. Most defects of blastogenesis and most midline defects were either nonsignificantly associated or not observed in infants with DS. Theories on the pathogenesis of defects in trisomies must account for the lack of and for the presence of specific defects. Am.
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## Neutrophil function defects occur in individuals with Down syndrome (DS) . We examined apoptosis of granulocytes (neutrophils and eosinophils) in DS individuals and control healthy subjects. Granulocyte survival was shortened in DS individuals, and the percentage of apoptotic granulocytes from
An epidemiological analysis of the association of polydactyly with other congenital anomalies was performed in 5,927 consecutively born polydactyly cases. They were grouped into three categories: duplicated fifth digit, duplicated first digit, and rare polydactylies; also into isolated or associated
We conducted a review of cancers in Down syndrome (DS), because solid tumors are poorly understood in DS. Cancers are in excess in this condition because of the 20-fold excess of leukemias, whereas malignant solid tumors seem to be globally underrepresented as compared with those in the general popu
Velocardiofacial syndrome (VCFS) is a common condition with complex phenotype. Umbilical hernia and anal stenosis/atresia have been reported; however, gastrointestinal anomalies are uncommon in VCFS [Goldberg et al., 1993;Mitnick et al., 1994;Worthington et al., 1997]. We describe two patients with
We have read with great interest the paper by Ka Β¨lle Β΄n et al. [1996] on major congenital malformations in Down syndrome. We would like to comment that the increased risk for anorectal atresia and esophageal atresia in Down syndrome, as observed in this paper, was previously identified by Khoury