Familial Hirschsprung's disease: 20 cases in 12 kindreds

Engum, Scott A.; Petrites, Mark; Rescorla, Frederick J.; Grosfeld, Jay L.; Morrison, Albert M.; Engles, Drew

doi:10.1016/s0022-3468(05)80314-8

Cited by 40 publications

(13 citation statements)

References 21 publications

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“…The incidence of other anomalies associated with HSCR in 4,328 reported cases varied between 5 and 32% with a mean of 21.1% (Table 1) [1,[5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21].…”

Section: The Incidence Of Associated Anomalies In Hscrmentioning

confidence: 99%

“…It stands to reason that similar molecular pathways may underlie these congenitally acquired conditions. USA, Detroit 220 19 [11] UK, Liverpool 120 20.8 [12] USA, Chicago 172 26.1 [14] USA, Boston 321 22 [15] USA, Indianapolis 20 25 [16] USA [27] London 220 1.47 [5] USA, Cincinnati 63 9.5 [6] USA, Oakland, CA 31 16.1 [142] USA, Baltimore 33 9 [143] USA, Pittsburgh 263 5.9 [1] Canada, Vancouver 178 2.8 [159] USA, Columbus, OH 80 2.8 [160] Sweden, Stockholm 90 2.9 [9] Japan 1628 15.5 [11] UK, Liverpool 880 4.2 [12] USA, Chicago 172 3.2 [13] South Africa 370 3.19 [14] USA, Boston 321 8.4 [161] Denmark 224 2.24 [146] Eire, Dublin 135 12.59 [18] Turkey, Ankara 302 12.5 [19] India 35 5.71 [20] Germany …”

Section: Hscr and Congenital Anomaliesmentioning

confidence: 99%

“…These include cleft palate (0.6-1.1%) as well as the Goldberg-Shprintzen [78], Pierre-Robin [15], Hanharts syndromes (micrognathia with craniofacial and distal limb anomalies) [8] as well as other craniofacial syndromes such as the Aarskog syndrome-faciogenital dysplasia linked to FDG1 gene [79] and Jeune asphyxiating fronto-nasal dysplasia [80]. In addition, some have characteristics of DiGeorge syndrome [81].…”

Section: Intestinal Atresiamentioning

confidence: 99%

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The contribution of associated congenital anomalies in understanding Hirschsprung’s disease

Moore

2006

Ped Surgery Int

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Hirschsprung's disease (HSCR) is a complex congenital disorder which, from a molecular perspective, appears to result due to disruption of normal signalling during development of enteric nerve cells, resulting in aganglionosis of the distal bowel. Associated congenital anomalies occur in at least 5-32% (mean 21%) of patients and certain syndromic phenotypes have been linked to distinct genetic sites, indicating underlying genetic associations of the disease and probable gene-gene interaction in its pathogenesis. Clear-cut associations with HSCR include Down's syndrome, dominant sensorineural deafness, Waardenburg syndrome, neurofibromatosis, neuroblastoma, phaeochromocytoma, the MEN type IIB syndrome and other abnormalities. Individual anomalies vary from 2.97% to 8%, the most frequent being the gastrointestinal tract (GIT) (8.05%), the central nervous system (CNS) and sensorineural anomalies (6.79%) and the genito-urinary tract (6.05%). Other associated systems include the musculoskeletal (5.12%), cardiovascular systems (4.99%), craniofacial and eye abnormalities (3%) and less frequently the skin and integumentary system (ectodermal dysplasia) and syndromes related to cholesterol and fat metabolism. In addition to associations with neuroblastoma and tumours related to MEN2B, HSCR may also be associated with tumours of neural origin such as ganglioneuroma, ganglioneuroblastoma, retinoblastoma and tumours associated with neurofibromatosis and other autonomic nervous system disturbances. The contribution of the major susceptibility genes on chromosome 10 (RET) and chromosome 13 (EDNRB) is well established in the phenotypic expression of HSCR. Whereas major RET mutations may result in HSCR by haploinsufficiency in 20-25% of cases, the etiology of the majority of sporadic HSCR is not as clear, appearing to arise from the combined cumulative effects of susceptibility loci at critical genes controlling the mechanisms of cell proliferation, differentiation and maturation. In addition, potential "modifying" associations exist with chromosome 2, 9, 20, 21 and 22, and we explore the importance of certain flanking genes of critical areas in the final phenotypic expression of HSCR.

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Section: The Incidence Of Associated Anomalies In Hscrmentioning

confidence: 99%

Section: Hscr and Congenital Anomaliesmentioning

confidence: 99%

Section: Intestinal Atresiamentioning

confidence: 99%

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The contribution of associated congenital anomalies in understanding Hirschsprung’s disease

Moore

2006

Ped Surgery Int

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“…Single centre cohort studies report familial recurrence rates for sporadic HSCR ranging from 1 to 10 % [11,12], illustrating a need for large volume patient data analysis. It was the purpose to this study to review the existing literature in a systematic fashion to identify the rate and patterns of familial recurrence of HSCR.…”

Section: Introductionmentioning

confidence: 99%

Familial hirschsprung’s disease: a systematic review

Laughlin

Puri

2015

Pediatr Surg Int

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“…Hirschsprung's disease (HD) is a common neurogenic cause of functional neonatal intestinal obstruction affecting approximately 1:5000 births [1][2][3]. The condition results from an interruption in the craniocaudal migration of neuroblasts originating from the neural crest during gestation manifested as an absence of ganglion cells in the affected bowel [4].…”

mentioning

confidence: 99%