Hirschsprung's disease in a kindred: A possible clue to the genetics of the disease*
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Hirschsprung's disease discordant in monozygotic twins: A study of possible environmental factors in the production of colonic aganglionosis
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Cited by (39)
Total colonic aganglionosis in Hirschsprung disease
2012, Seminars in Pediatric SurgeryCitation Excerpt :A number of developmental conditions have been associated with TCA,51 along with several known syndromes inherited in an autosomal-dominant manner. Although the pattern of conditions associated with HSCR has already been of great value in revealing many of the genetic natures and associations of the disease,54,55 there appears to be no consistent association with specific anomalies and TCA. Associations with chromosomal abnormalities (including Down syndrome)56,57 and other syndromes such as the congenital hypoventilation syndrome (with a paired-like homeobox 2b [PHOX2] gene mutation57) as well as associations with other congenital anomalies (eg, ileal atresia58,59) and tumors of neural origin60 indicate a probable genetic mechanism.
A review of genetic mutation in familial Hirschsprung's disease in South Africa: towards genetic counseling
2008, Journal of Pediatric SurgeryCitation Excerpt :The risk of an inherited familial predisposition is well established (2.4%-9%) [3,4], as well as occurrence in mono- and dizygotic twins [12,10] and a 12% association with chromosomal anomalies. Nevertheless, no clear pattern of inheritance exists [3,15], and autosomal dominant [16,17], recessive [18-20], and multigenic patterns [21] have all been reported. Most HSCR cases can thus be classified as complex genetic disorders where familial aggregation is observed without consistent mendelian inheritance [22].
Hirschsprung's disease: Genetic and functional associations of Down's and Waardenburg syndromes
1998, Seminars in Pediatric SurgeryFamilial Hirschsprung's disease: 20 cases in 12 kindreds
1993, Journal of Pediatric SurgeryAssociation of Hirschsprung's disease and Müllerian inhibiting substance deficiency
1992, Journal of Pediatric Surgery
- *
Presented before the 30th Annual Meeting of the Surgical Section of the American Academy of Pediatrics, New Orleans, La., October 31–November 1, 1981.
- 1
From the Division of Pediatric Surgery, The Milton S. Hershey Medical Center, The Pennsylvania State University, Hershey, Penn.