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

Pediatric Surgery International

Volumn 22, Issue 4, 2006, Pages 305-315

  Moore, S W ^a  

^a STELLENBOSCH UNIVERSITY   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

ANORECTAL MALFORMATION; CARDIOVASCULAR MALFORMATION; CELL DIFFERENTIATION; CELL MATURATION; CELL PROLIFERATION; CENTRAL NERVOUS SYSTEM MALFORMATION; CHOLESTEROL METABOLISM; CHROMOSOME 10; CHROMOSOME 13; CHROMOSOME 2; CHROMOSOME 20; CHROMOSOME 21; CHROMOSOME 22; CHROMOSOME 9; CONGENITAL MALFORMATION; CRANIOFACIAL MALFORMATION; DISEASE ASSOCIATION; DOWN SYNDROME; ECTODERMAL DYSPLASIA; EDNRB GENE; EYE MALFORMATION; GANGLIONEUROMA; GASTROINTESTINAL MALFORMATION; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; HIRSCHSPRUNG DISEASE; HUMAN; INTESTINE ATRESIA; INTESTINE INNERVATION; INTESTINE MALFORMATION; LIPID METABOLISM; MUSCULOSKELETAL SYSTEM MALFORMATION; NEUROBLASTOMA; NEUROFIBROMATOSIS; ONCOGENE RET; PERCEPTION DEAFNESS; PHENOTYPE; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; RETINOBLASTOMA; REVIEW; SYNDROME; TRISOMY 21; UROGENITAL TRACT MALFORMATION; WAARDENBURG SYNDROME;

ABNORMALITIES; ANIMALS; COMORBIDITY; GENETIC PREDISPOSITION TO DISEASE; HIRSCHSPRUNG DISEASE; HUMANS; INCIDENCE; MICE;

EID: 33645380163     PISSN: 01790358     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00383-006-1655-2     Document Type: Review

References (161)

1. Spouge D, Baird PA (1985) Hirschsprung disease in a large birth cohort. Teratology 32:171-177
2. Bolk S, Pelet A, Hofstra RM, Angrist M, Salomon R, Croaker D et al (2000) A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. Proc Natl Acad Sci USA 97(1):268-273
3. Amiel J, Lyonnet S ( 2001) Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet 38(11):729-739
4. Carrasquillo MM, McCallion AS, Puffenberger EG, Kaschuk CS, No N, Chakravarti A (2002) Genome-wide association study as well as the study of mouse models help to identify the interaction between RET and EDNRB pathways in Hirschsprung disease. Nat Genet 32:237-244
5. Passarge E (1967) The genetics of Hirschsprung disease. N Engl J Med 276:138-143
6. Kilcoyne RF, Taybi H (1970) Conditions associated with congenital megacolon. Am J Roentgenol Radium Ther Nucl Med 108(3):615-620
7. Ehrenpreiss TH (1970) Hirschsprung disease. In: Ehrenpreiss TH (eds) Hirschsprung disease. Year Book Medical Publishers, Chicago, pp 58-61
8. Polley TZ, Coran AG (1986) Hirschsprung disease in the newborn. Pediatr Surg Int 1:80-83
9. Ikeda K, Goto S (1986) Additional anomalies in Hirschsprung disease: an analysis based on a nationwide survey in Japan. Z Kinderchir 41:279-281
10. Sieber WK (1986) Hirschsprung disease. In: Welch KJ, Randolph JG, Ravitch MM (eds) Pediatric surgery. Year Book Medical Publishers, Chicago, pp 995-1020
11. Lister J, Tam PK (1990) Hirschsprung disease. In: Lister J, Irving IM (eds) Neonatal surgery. Butterworth, London, pp 523-546
12. Swenson O, Raffensberger JG (1990) Hirschsprung disease. In: Raffensberger JG (eds) Swensons paediatric surgery. Appleton and Lange, New York, pp 555-578
13. Moore SW, Rode H, Millar AJ, Albertyn R, Cywes S (1991) Familial aspects of Hirschsprung disease. Eur J Pediatr Surg 1:97-107
14. Ryan ET, Ecker JL, Christakis NA, Folkman J (1992) Hirschsprung's disease: associated abnormalities and demography. J Pediatr Surg 27(1):76-81
15. Engum SA, Petrites M, Rescorla FJ, Grosfeld JL, Morrison AM, Engles D (1993) Familial Hirschsprung's disease: 20 cases in 12 kindred.J Pediatr Surg 28(10):1286-1290
16. Klein MD, Philippart AI (1993) Hirschsprung's disease: three decades' experience at a single institution. J Pediatr Surg 28(10):1291-1293
17. Halevy H, Mares A, Cohen Z, Finaly R, Freud E, Pilpel D (1994) Hirschprung's disease in the Negev. Harefuah 127(5-6):148-154
18. Sarioglu A, Tanyel FC, Buyukpamukcu N, Hicsonmez A (1997) Hirschsprung-associated congenital anomalies. Eur J Pediatr Surg 7(6):331-337
19. Das K, Alladi A, Kini U, Babu MK, D'Cruz AJ (2001) Hirschsprung's disease, associated rare congenital anomalies. Indian J Pediatr 68(9):835-837
20. Holschneider AM, Ure BM (2003) Hirschsprung's disease. In: Ashcraft KW, Holcomb GW, Murphy J-P (eds) Pediatric surgery. Elsevier, Philadelphia, pp 453-468
21. Singh SJ, Croaker GD, Manglick P, Wong CL, Athanasakos H, Elliott E et al (2003) Hirschsprung's disease: the Australian paediatric surveillance unit's experience. Pediatr Surg Int 19(4):247-250
22. Weinberg AG, Currarino G, Besserman M (1977) Hirschsprungs disease and congenital deafness. Hum Genet 38:157-161
23. Schocket E, Telok HA (1957) Aganglionic megacolon, phaeochromocytoma, megaloureter and neurofibromatosis. Am J Dis Child 94:185-191
24. Bolande RP (1974) The neurocristopathies, a unifying concept of disease arising in neural crest maldevelopment. Hum Pathol 5:409-429
25. Shah KN, Dalal SJ, Desai MP (1981) White forelock, pigmentary disorder of irides and long segment Hirschsprung's disease: possible variant of Waardenbura syndrome. J Pediatr 99:432-435
26. Khan AH, Desjardin JG, Gregoire H, Seidman E (1987) Gastrointestinal manifestations of the Sipple syndrome in children. J Pediatr Surg 22:719-723
27. Bodian M, Carter CO (1963) Family study of Hirschsprung's disease. Ann Human Genet 26:261-271
28. Emmanuel B, Padorr MP, Swenson O (1965) Familial absence of myenteric plexes (congenital megacolon). J Pediatr 67:381-386
29. Gordon H, Louw JH, Torrington M, Cywes S (1966) A genetical study of Hirschsprung's disease. S Afr Med J 40:720-721
30. Kleinhaus S, Boley SJ, Sheran M, Sieber WK (1979) Hirschsprung's disease: a survey of the surgical section of the American Academy of Pediatrics. J Pediatr Surg 14:588-597
31. Brown RA, Cywes C (2000) Disorders and congenital malformations associated with Hirschsprung's disease. In: Holschneider AM, Puri P (eds) Hirschsprungs disease. Harcourt, Amsterdam, pp 137-145
32. de Bruyn R, Hall CM, Spitz L (1982) Hirschsprung's disease and malrotation of the mid-gut. An uncommon association. Br J Radiol 55(656):554-557
33. Ko S, Fujii H, Yamamoto K, Sado S, Yamamoto M, Nakano H (1991) Hirschsprung's disease associated with intestinal malrotation in an adult and a review of literature. Nippon Geka Gakkai Zasshi 92(4):469-472
34. Jain SK, Singla SK, Sharma M, Pathania OP, Taneja SB (1989) Hirschsprung's disease with intestinal malrotation and midgut volvulus: a rare association. Indian J Gastroenterol 8(3):201
35. Tamburrini O, Bartolomeo-De Iuri A, Palescandolo P, Marte A, Amici G (1986) Hirschsprung's disease and asymptomatic malrotation: a rare association. Pediatr Radiol 16(3):250-251
36. Corsois L, Boman F, Sfeir R, Mention K, Michaud L, Poddevin F et al (2004) Extensive Hirschsprung's disease associated with intestinal malrotation. Arch Pediatr 11(10):1205-1208
37. Moore SW (1993) The study of the etiology of post-surgical obstruction in patients with Hirschsprung's disease. MD thesis, University of Cape Town
38. Ramalho-Santos M, Melton DA, McMahon AP (2000) Hedgehog signals regulate multiple aspects of gastrointestinal development. Development 127(12):2763-2772
39. Flageole H, Fecteau A, Laberge JM, Guttman FM (1996) Hirschsprung's disease, imperforate anus, and Down's syndrome: a case report. J Pediatr Surg 31(6):759-760
40. Meijers C, Mulder M (1995) Anteroposterior differences within caudal hindbrain neural crest cell populations and the development of the enteric nervous system. Presented at the second international meeting: Hirschsprung disease and related Neurocristopathies, Cleveland October 1995
41. Watanatittan S, Suwatanaviroj A, Limprutithum T, Rattanasuwan T (1991) Association of Hirschsprung's disease and anorectal malformation. J Pediatr Surg 26(2):192-195
42. Takada Y, Aoyama K, Goto T, Mori S (1985) The association of imperforate anus and Hirschsprung's disease in siblings. J Pediatr Surg 20(3):271-273
43. Clarke SA, Van der Avoirt A (1999) Imperforate anus, Hirschsprung's disease and trisomy 21: a rare combination. J Pediatr Surg 34(12):1874
44. Moore SW, Zaahl M (2006) Association of endothelin-receptor (EDNRB) gene variants with anorectal malformation patients in the diverse South African population. J Pediatr Surg (in press)
45. Romeo G, Ronchetto P et al (1994) Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature 367:378-380
46. Fishman SJ, Islam S, Buonomo C, Nurko S (2001) Nonfixation of an atretic colon predicts Hirschsprung's disease. J Pediatr Surg 36(1):202-204
47. Currie ABM, Hemalatha AH, Doraiswamy NV, Cox SA (1983) Colonic atresia in association with Hirschsprung's disease. J Roy Coll Surg Edinburgh 28:31-34
48. Gauderer M, Rothstein FC, Izant R (1984) Heal atresia and long segment Hirschsprungs disease in a neonate. J Pediatr Surg 19(1): 15-17
49. Moore S.W, Millar A, Rode H, Cywes S (1990) Intestinal atresia and Hirschsprungs disease. Pediatr Surg Int 5(3): 182-189
50. Shahar E, Shinawi M (2003) Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung's disease. Pediatr Neurol 28(5):385-391
51. Mowat DR, Wilson MJ, Goossens M (2003) Mowat-Wilson syndrome. J Med Genet 40(5):305-310
52. Mathew A (1998) Anencephaly-associated aganglionosis. Am J Med Genet 80(5):518-520
53. Melaragno MI, Brunoni D, Patricio FR, Corbani M, Mustacchi Z, dos Santos Rde C et al (1992) A patient with tetrasomy 9p, Dandy-Walker cyst and Hirschsprung disease. Ann Genet 35(2):79-84
54. Bolk-Gabriel S, Salomon R, Pelet A, et al.(2002) Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet 1:89-93
55. Okamoto N, Wada Y, Goto M (1997) Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM. J Med Genet 34(8):670-671
56. McGaughran J, Sinnott S, Moal FD, Wilson M, Mowat D, Sutton B et al (2005) Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation. Am J Med Genet A 137(3):302-304
57. Sztriha L, Frossard P, Hofstra RM, Verlind E, Nork M (2000) Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus. J Child Neurol 15(4):239-243
58. Gregory-Evans CY, Vieira H, Dalton R, Adams GG, Salt A, Gregory-Evans K (2004) Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21. Am J Med Genet A 131(1):86-90
59. Merkler RG, Solish SB, Scherzer AL (1985) Meningomyelocele and Hirschprung disease: theoretical and clinical significance. Pediatrics 76(2):299-300
60. Swenson O (1957) Follow-up of 200 patients treated for Hirschsprungs disease during a 10-year period. Ann Surg 146:706-714
61. Festen C (1975) Anomalies of the urinary tract in Hirschsprung's disease. Z Kinderchir 17:376-380
62. Pingault V, Puliti A, Prehu M-O, Samadi A, Bondurand N, Goossens M (1997) Human homology and candidate genes for the dominant megacolon locus, a mouse model of Hirschsprung disease. Genomics 39:86-89
63. Hou JW (2004) Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome. J Formos Med Assoc 103(8):629-632
64. Kaiser G, Bettex M (1982) Disorders and congenital malformations associated with Hirschsprungs disease. In: Holschneider AM (ed) Hirschsprung's disease. Hipokrates-Verlag, Stuttgart, pp 49-53
65. Cass DT, Hutson J (1992) Association of Hirschsprung's disease and Mullerian inhibiting substance deficiency. J Pediatr Surg 27(12):1596-1599
66. Mandel H, Brik R, Ludatscher R, Braun J, Berant M (1993) Congenital muscular dystrophy with neurological abnormalities: association with Hirschsprung disease. Am J Med Genet 47(1):37-40
67. Alkuraya FS, Lin AE, Irons MB, Kimonis VE (2005) Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement. Am J Med Genet A+ 132(2):226-230
68. Santos H, Mateus J, Leal MJ (1988) Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome. J Med Genet 25(3):204-205
69. Laurence KM, Prosser R, Rocker I, Pearson JF, Richard C (1975) Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly in sibs: a case for fetoscopy. J Med Genet 12(4):334-338
70. Huang T, Elias ER, Mulliken JB, Kirse DJ, Holmes LB (1999) A new syndrome: heart defects, laryngeal anomalies, preaxial polydactyly, and colonie aganglionosis in sibs. Genet Med 1(3): 104-108
71. Jespers A, Buntinx I, Melis K, Vaerenberg M, Janssens G (1993) Two siblings with midline field defects and Hirschsprung disease: variable expression of Toriello-Carey or new syndrome? Am J Med Genet 47(2):299-302
72. Goldenberg A, Milh M, de Lagausie P, Mesnage R, Benarif F, de Blois MC et al. (2003) Werner mesomelic dysplasia with Hirschsprung disease. Am J Med Genet A 123(2):186-189
73. le Merrer M, Briard ML, Chauvet ML, Maroteaux P (1991) Autosomal recessive metaphyseal chondrodysplasia and Hirschsprung's disease. Ann Pediatr (Paris) 38(1):27-30
74. Reish O, Gorlin RJ, Hordinsky M, Rest EB, Burke B, Berry SA (1997) Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia (BRESEK/BRESHECK): new X-linked syndrome? Am J Med Genet 68(4):386-390
75. Dudin AA, Rambaud-Cousson A (1993) Syndrome of infantile osteopetrosis and Hirschsprung disease in seven children born to four consanguineous unions in two families. Am J Med Genet 47(7): 1083-1085
76. Nowaczyk MJ, James AG, Superina R, Siegel-Bartelt J (1997) Hirschsprung disease, postaxial polydactyly, and atrial septal defect. Am J Med Genet 68(1):74-75
77. Lorda-Sanchez I, Ayuso C, Ibanez A (2000) Situs inversus and hirschsprung disease: two uncommon manifestations in Bardet-Biedl syndrome. Am J Med Genet 90(1):80-81
78. Yomo A, Taira T, Kondo I (1991) Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs. Am J Med Genet 41(2):188-191
79. Orrico A, Galli L, Cavaliere ML, Garavelli L, Fryns JP, Crushell E et al (2004) Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. Eur J Hum Genet 12(1): 16-23
80. Aurora P, Wallis CE (1999) Jeune syndrome (asphyxiating thoracic dystrophy) associated with Hirschsprung disease. Clin Dysmorphol 8(4):259-263
81. Kerstjens-Frederikse WS, Hofstra RM, van Essen AJ, Meijers JH, Buys CH (1999) A Hirschsprung disease locus at 22q11? J Med Genet 36(3):221-224
82. Young HM, Hearn CJ, Farlie PG, Canty AJ, Thomas PQ, Newgreen DF (2001) GDNF is a chemoattractant for enteric neural cells. Dev Biol 229(2):503-516
83. Farlie PG, McKeown SJ, Newgreen DF (2005) The neural crest: basic biology and clinical relationships in the craniofacial and enteric nervous systems. Birth Defects Res C Embryo Today 72(2):173-189
84. Wakamatsu N, Yamada Y, Yamada K , Ono T, Nomura N, Taniguchi H, Kitoh H, Mutoh N, Yamanaka T, Mushiake K, Kato K, Sonta S, Nagaya M (2001) Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease. Nature Genet 27:369-370
85. Espinosa-Parrilla Y, Amiel J, Auge J, Encha-Razavi F, Munnich A, Lyonnet S et al (2002) Expression of the SMA-DIP1 gene during early human development. Mech Dev 114(1-2):187-191
86. Guion-Almeida ML, Richieri-Costa A (1992) Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome. Am J Med Genet 43(6):929-931
87. Ohnuma K, Imaizumi K, Masuno M, Nakamura M, Kuroki Y (1997) Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma Am J Med Genet 73(2):230-232
88. Fryer AE (1998) Goldberg-Shprintzen syndrome: report of a new family and review of the literature. Clin Dysmorphol 7(2):97-101
89. Brooks AS, Breuning MH, Osinga J, vd Smagt JJ, Catsman CE, Buys CH et al (1999) A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome). J Med Genet 36(6):485-489
90. Webb GC, Keith CG, Campbell NT (1988) Concurrent de novo interstitial deletion of band 2p22 and reciprocal translocation (3:7)(p21;q22). J Med Genet 25:125-127
91. Lehman DM, Sponsel WE, Stratton RF, Mensah J, Macdonald JC, Johnson-Pais TL et al. (2001) Genetic mapping of a novel X-linked recessive colobomatous microphthalmia. Am J Med Genet 101(2): 114-119
92. Ferrell RE, Chakravarti A, Hittner HM, Riccardi VM (1980) Autosomal dominant aniridia: probable linkage to acid phosphatase-1 locus on chromosome 2. Proc Natl Acad Sci USA 77(3):1580-1582
93. Schimmenti LA, Manligas GS, Sieving PA (2003) Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome. Ophthalmic Genet 24(4):191-202
94. Edery P, Attie T, Amiel J, Pelet A, Eng C, Hofstra RM et al. (1996) Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet 12(4):442-444
95. Schocket L S, Beaverson K L, Rollins I S, Abramson D H (2003) Bilateral retinoblastoma, microphthalmia, and colobomas in the 13q deletion syndrome. Arch Ophthalmol 121:916-917
96. Lansink PJ, Moll AC, Imhof SM, Scheuten van Meeteren AY, Goverts ST (2005) Variable expression of ophthalmological findings in the 13q deletion syndrome. Arch Ophthalmol 123(1):127-128
97. Chan KK, Wong CK, Lui VC, Tam PK, Sham MH (2003) Analysis of SOX10 mutations identified in Waardenburg-Hirschsprung patients: Differential effects on target gene regulation. J Cell Biochem 90(3):573-585
98. Bondurand N, Kuhlbrodt K, Pingault V, Enderich J, Sajus M, Tommerup N et al (1999) A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. Hum Mol Genet 8(9):1785-1789
99. Inoue K, Khajavi M, Ohyama T, Hirabayashi S, Wilson J, Reggin JD et al (2004) Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet 36(4):361-369
100. Croaker GD, Shi E, Simpson E, Cartmill T, Cass DT (1998) Congenital central hypoventilation syndrome and Hirschsprung's disease. Arch Dis Child 78(4):316-322
101. Lankosz-Lauterbach J, Sanak M (1987) Oculoauriculovertebral syndrome (Goldenhar syndrome) associated with Hirschsprung disease. Pediatr Pol 62(4):249-252
102. Hofstra RM, Osinga J, Tan-Sindhunata G, Wu Y, Kamsteeg EJ, Stulp RP et al (1996) A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nat Genet 12(4):445-447
103. Hou L, Pavan WJ, Shin MK, Arnheiter H (2004) Cell-autonomous and cell non-autonomous signaling through endothelin receptor B during melanocyte development. Development 131(14):3239-3247
104. Gross A, Kunze J, Maier RF, Stoltenburg-Didinger G, Grimmer I, Obladen M (1995) Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome. Am J Med Genet 56(3):322-326
105. Verheij JB, Kunze J, Osinga J, van Essen AJ, Hofstra RM (2002) ABCD syndrome is caused by a homozygous mutation in the EDNRB Gene. Am J Med Genet 108(3):223-225
106. Mahakrishnan A, Srinivasan MS (1980) Piebaldness with Hirschsprung's disease. Arch Dermatol 116(10):1102
107. Antonellis A, Bennett WR, Menheniott TR, Prasad AB, Lee-Lin SQ, Green ED et al (2005) Deletion of long-range sequences at Sox10 compromises developmental expression in a Mouse Model of Waardenburg-Shah (WS4) syndrome. Hum Mol Genet (in press)
108. Makitie O, Heikkinen M, Kaitila I, Rintala R (2002) Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis. J Pediatr Surg 37(11):1585-1588
109. Bonafe L, Schmitt K, Eich G, Giedion A, Superti-Furga A (2002) RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. Clin Genet 61(2):146-151
110. Sulisalo T, Sistonen P, Hastbacka J, Wadelius C, Makitie O, de la Chapelle A et al (1993) Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis. Nat Genet 3(4):338-341
111. Mallory SB, Haynie LS, Williams ML, Hall W (1989) Ichthyosis, deafness, and Hirschsprung's disease. Pediatr Dermatol 6(1):24-27
112. Nadir E, Yerman S, Feldman M (2005) A female neonate with Hirschsprung's disease and ichthyosis. Isr Med Assoc J 7(5):342-343
113. Lesca G, Sinilnikova O, Theuil G, Blanc J, Edery P, Till M (2005) Xp22.3 microdeletion including VCX-A and VCX-B1 genes in an X-linked ichthyosis family: no difference in deletion size for patients with and without mental retardation. Clin Genet 67(4):367-368
114. Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, et al. (2005) Mutations in ABCA12 underlie the severe congenital skin disease Harlequin Ichthyosis. Am J Hum Genet 76(5):794-803
115. Cass D ( 1990) Aganglionosis: associated anomalies. J Paediatr Child Health 26(6):351-354
116. Patterson K, Toomey KE, Chandra RS (1983) Hirschsprung disease in a 46 XY phenotypic infant girl with Smith-Lemli-Opitz syndrome. J Pediatr 103(3):425-427
117. Rakheja D, Wilson GN, Rogers BB (2003) Biochemical abnormality associated with Smith-Lemli-Opitz syndrome in an infant with features of Rutledge multiple congenital anomaly syndrome confirms that the latter is a variant of the former. Pediatr Dev Pathol 6(3):270-277
118. Maeda T, Okazaki K, Tachibana M, Sakamoto Y, Sakaeda H, Yamamoto Y et al (1984) A case of Hirschsprung's disease associated with Laurence-Moon-Bardet- Biedl syndrome. Nippon Shokakibyo Gakkai Zasshi 81(3):912-916
119. Islek I, Kucukoduk S, Erkan D, Bernay F, Kalayci AG, Gork S et al (1996) Bardet-Biedl syndrome: delayed diagnosis in a child with Hirschsprung disease. Clin Dysmorphol 5(3):271-273
120. Hurst JA, Markiewicz M, Kumar D, Brett EM (1988) Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration. J Med Genet 25(7):494-497
121. Michna BA, McWilliams NB, Krummel TM, Hartenberg MA, Salzberg AM (1988) Multifocal ganglioneuroblastoma coexistent with total colonic aganglionosis. J Pediatr Surg 23(1-2):57-59
122. Hamel CJ, Severijnen RS, De Vaan GA (1994) Neurocristopathy in mother (ganglioneuroblastoma) and daughter (aganglionosis): incidental or causal? Genet Couns 5(3):303-305
123. Nemecek ER, Sawin RW, Park J (2003) Treatment of neuroblastoma in patients with neurocristopathy syndromes. J Pediatr Hematol Oncol 25(2):159-162
124. Weigel BJ, Pierpont ME, Young TL, Mutchler SB, Neglia JP (1998) Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13. Am J Med Genet 77(4):285-288
125. Sparkes RS, Sparkes MC, Kalina RE, Pagon RA, Salk DJ, Disteche CM (1984) Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3). Hum Genet 68:258-259
126. Mulligan LM, Eng C, Attie T, Lyonnet S, Marsh DJ, Hyland VJ et al. (1994) Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. Hum Mol Genet 3(12):2163-2167
127. Xing S, Furminger TL, Tong Q, Jhiang SM. (1998) Signal transduction pathways activated by RET oncoproteins in PC12 pheochromocytoma cells. J Biol Chem 273(9):4909-4914
128. Clausen N, Andersson P, Tommerup N (1989) Familial occurrence of neuroblastoma, von Recklinghausen's neurofibromatosis, Hirschsprung's agangliosis and jaw-winking syndrome. Acta Paediatr Scand 78(5):736-741
129. Maris JM, Kyemba SM, Rebbeck TR, White PS, Sulman EP, Jensen SJ et al (1997) Molecular genetic analysis of familial neuroblastoma. Eur J Cancer 33(12):1923-1928
130. Trochet D, Bourdeaut F, Janoueix-Lerosey I, Deville A, de Pontual L, Schleiermacher G et al (2004) Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Am J Hum Genet 74(4):761-764
131. Weese-Mayer DE, Berry-Kravis EM, Marazita ML (2005) In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome. Respir Physiol Neurobiol 149(1-3):73-82
132. Raskind WH, Conrad EU, Matsushita M (1996) Frequent loss of heterozygosity for markers on chromosome arm 10q in chondrosarcomas. Genes Chromosomes Cancer 16(2):138-143
133. Kondo H, Harigaya K, Kurosu K, Yumoto N, Mikata A (1994) Peripheral T cell lymphoma (immunoblastic type, HTLV-1 negative) associated with aganglionosis of the intestine. Rinsho Ketsueki 35(5):495-500
134. Cohen I, Gadd MA (1982) Hirschsprungs disease in a kindred: a possible clue to the genetics of the disease. J Pediatr Surg 17:632-634
135. McCallion AS, Emison ES, Kashuk CS, Bush RT, Kenton M, Carrasquillo MM et al (2003) Genomic variation in multigenic traits: Hirschsprung disease. Cold Spring Harb Symp Quant Biol 68:373-381
136. Auricchio A, Griseri P, Carpentieri ML, Betsos N, Staiano A, Tozzi A et al. (1999) Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. Am J Hum Genet 64(4):1216-1221
137. Moore SW, Zaahl M (2004) Combined associations of RET and EDNRB in sporadic Hirschsprungs disease: evaluation of 2-locus genetic associations. In: Presented at the 4th international meeting: Hirschsprung disease and related Neurocristopathies Sestri Levante, Italy
138. Garcia-Barcelo M, Sham MH, Lui VC, Chen BL, Ott J, Tam PK (2003) Association study of PHOX2B as a candidate gene for Hirschsprung's disease. Gut 52(4):563-567
139. Garcia-Barcelo M, Sham MH, Lee WS, Lui VC, Chen BL, Wong KK et al (2004) Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease. Clin Chem 50(1):93-100
140. Auricchio A, Casari G, Stalano A, Ballabio A (1996) Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from non-inbred populations. Hum Mol Genet 5:351-354
141. Graivier L, Sieber WK (1966) Hirschsprung's disease and mongolism. Surgery 60:458-461
142. Goldberg E (1984) An epidemiological study of Hirschsprung's disease. Int J Epidemiol 13:479-485
143. Garver K, Law J, Garver B (1985) Hirschsprung disease: a genetic study. Clin Genet 28:503-508
144. Caniano DA, Ormsbee HS, Polito W, Sun CC, Baronne FC, Hill JL (1985) Total intestinal aganglionosis. J Pediatr Surg 20:456-460
145. Badner JA, Sieber WK, Garver KL, Chakravarti A (1990) A genetic study of Hirschsprung disease. Am J Hum Genet 46:568-580
146. Quinn FM, Surana R, Puri P (1994) The influence of trisomy 21 on outcome in children with Hirschsprung's disease. J Pediatr Surg 29:781-783
147. Moore SW, Johnson GA (1998) Hirschsprung's disease: genetic and functional associations of Down's and Waardenburgh's syndromes. Seminars in Paediatric Surgery (USA) 7(3):156-161
148. Puffenberger E, Kauffman E, Bolk S, et al. (1994) Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum Mol Genet 3:1217-1225
149. Leffler A, Wedel T, Busch LC (1999) Congenital colonic hypoganglionosis in murine trisomy 16 - an animal model for Down's syndrome. Eur J Pediatr Surg 9(6):381-388
150. Wright TC, Orkin RW, Destrempes M, Kurnit D (1984) Increased adhesiveness of Down syndrome fetal fibroblasts in vitro. Proc Natl Acad Sci USA 81:2426-2430
151. Zaahl MG, du Plessis L, Warnich L, Kotze MJ, Moore SW (2003) Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: Predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome. Mol Cell Probes 17(1):49-54
152. Rivera-Matos I, Rakita R, Mariscalco M, Elder F, Dreyer S, Cleary T (1995) Leukocyte adhesion deficiency mimicking Hirschsprung disease. J Pediatr 127(5):755-757
153. Gahmberg CG, Tolvanen M, Kotovuori P (1997) Leukocyte adhesion-structure and function of human leukocyte beta2-in-tegrins and their cellular ligands. Eur J Biochem 245(2):215-232
154. Strunk T, Temming P, Gembruch U, Reiss I, Bucsky P, Schultz C (2004) Differential maturation of the innate immune response in human fetuses. Pediatr Res 56(2):219-226
155. Patarroyo M, Prieto J, Rincon J, Timonen T, Lundberg C, Lindbom L et al. (1990) Leukocyte-cell adhesion: a molecular process fundamental in leukocyte physiology. Immunol Rev 114:67-108
156. Tuluc F, Garcia A, Bredetean O, Meshki J, Kunapuli SP (2004) Primary granule release from human neutrophils is potentiated by soluble fibrinogen through a mechanism depending on multiple intracellular signaling pathways. Am J Physiol Cell Physiol 287(5):C1264-1272
157. Marski M, Kandula S, Turner JR, Abraham C (2005) CD18 is required for optimal development and function of CD4 + CD25+ T regulatory cells. J Immunol 175(12):7889-7897
158. Solari V, Ennis S, Yoneda A, Wong L, Messineo A, Holl-warth ME et al. (2003) Mutation analysis of the RET gene in total intestinal aganglionosis by wave DNA fragment analysis system. J Pediatr Surg 38(3):497-501
159. Caniano DA, Teitelbaum DH, Qualman SJ (1990) Management of Hirschsprungs disease in children with Trisomy 21. Am J Surg 159:402-404
160. Molander M-L (1990) Hirschsprungs disease in mentally retarded patients: a bad prognostic combination. Pediatr Surg Int 5:339-340
161. Russell MB, Russell CA, Fenger K, Niebuhr E (1994) Familial occurence of Hirschsprung's disease. Clin Genet 45(5):231-235