Hirschsprung disease, postaxial polydactyly, and atrial septal defect

American Journal of Medical Genetics

Volumn 68, Issue 1, 1997, Pages 74-75

  Nowaczyk, M J M ^a   James, A G ^a   Superina, R ^a   Siegel Bartelt, J ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

autosomal recessive inheritance; congenital aganglionic megacolon

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CONSANGUINEOUS MARRIAGE; FEMALE; HEART ATRIUM SEPTUM DEFECT; HIRSCHSPRUNG DISEASE; HUMAN; INFANT; IRAQ; MALFORMATION SYNDROME; POLYDACTYLY; PRIORITY JOURNAL; PULL THROUGH OPERATION;

ABNORMALITIES, MULTIPLE; FEMALE; HEART SEPTAL DEFECTS, ATRIAL; HIRSCHSPRUNG DISEASE; HUMANS; INFANT, NEWBORN; POLYDACTYLY;

EID: 0031021225     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970110)68:1<74::AID-AJMG14>3.0.CO;2-L     Document Type: Article

References (19)

1. Al-Gazali LI, Donnai D, Mueller RF (1988): Hirschsprung disease, hypoplastic nails and minor dysmorphic features: A distinct autosomal recessive syndrome? J Med Genet 25:758-610.
2. Angrist M, Kauffman E, Slaugenhaupt SA, Matis TC, Puffenberger EG, Washington SS, Lipson A, Cass DT, Reyna T, Weeks DE, Sieber W, Chakravarti A (1993): A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10. Nat Genet 4:351-356.
3. Attie T, Till M, Amiel J, Edery P, Pelet A, Munnich A, Lyonnet S (1995): Endothelin receptor B gene mutation in a consanguineous family with Waardenburg-Hirschsprung disease. Am J Hum Genet 57:A6.
4. Branski D, Dennis NR, Neale JM, Brook L (1979): Hirschsprung disease and Waardenburg syndrome. Pediatrics 63:803-805.
5. Edery P, Lyonnet S, Mulligan LM, Pelet A, Dow E, Abel L, Holder S, Nihoul-Fekete C, Ponder BAJ, Munnich A (1994): Mutations of the RET proto-oncogene in Hirschsprung disease. Nature 367: 378-380.
6. Fewtrell MS, Tam PKH, Thomson AH, Fitchett M, Currie J, Huson SM, Mulligan LM (1994): Hirschsprung disease associated with a deletion of chromosome 10 (q11.2q21.2): A further link with the neurocristopathies? J Med Genet 31:325-327.
7. Goldberg MF (1966): Waardenburg syndrome with fundus and other abnormalities. Arch Ophthalmol 40:797-810.
8. Haddad GG, Mazza NM, Defendini R, Blanc WA, Driscoll JM, Epstein MAF, Epstein RA, Mellins RB (1978): Congenital failure of automatic control of ventilation, gastrointestinal motility and heart rate. Medicine (Baltimore) 57:517-526.
9. Hurst JA, Markiewicz M, Kumar D, Brett EM (1988): Hirschsprung disease, microcephaly, and iris coloboma: A new syndrome of defective neuronal migration. J Med Genet 25:494-500.
10. Knox GE, Bensel RW (1972): Gastrointestinal malformations in Down syndrome. Minn Med 55:542-544.
11. Laurence KM, Prosser R, Rocker I, Pearson JF, Richards C (1975): Hirschsprung disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly in sibs: A case for fetoscopy. J Med Genet 12:334-338.
12. Liang JC, Juarez CP, Goldberg MF (1983): Bilateral bicolored irides with Hirschsprung disease: A neural crest syndrome. Arch Ophthalmology 101:69-73.
13. Omenn GS, McKusick VA (1979): The association of Waardenburg syndrome and Hirschsprung megacolon. Am J Med Genet 3: 217-223.
14. Patterson K, Tooney KE, Chandra RS (1983): Hirschsprung disease in a 46, XY, phenotypic infant girl with Smith-Lemli-Opitz syndrome. J Pediatr 103:425-427.
15. Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa Y, Chakravarti A (1994): A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung disease. Cell 79:1257-1266.
16. Reyna TM (1994): Familial Hirschsprung's disease: Study of a Texas cohort. Pediatrics 94:347-349.
17. Reynolds JF, Barber JC, Alford BA, Chandler JG, Kelly TE (1983): Familial Hirschsprung disease and type D brachydactyly: A report of four affected males in two generations. Pediatrics 71:246-249.
18. Romeo G, Ronchetto P, Luo Y, Barone V, Seri M, Ceccherini I, Pasini B, Bocciardi R, Lerone M, Kaarlainene H, Martuciello G (1994): Point mutation affecting the tyrosine kinase domain of the RET protooncogene in Hirschsprung's disease. Nature 367:377-378.
19. 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 25:204-208.