« Previous
Next »
Pediatric Neurology
Volume 28, Issue 5
, Pages 385-391
, May 2003
Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung’s disease
References
- . The neurocristopathies (A unifying concept of disease arising in neural crest maldevelopment). Hum Pathol. 1974;5:409–429
- . Neurocristopathy (Its growth and development in 20 years). Pediatr Pathol Lab Med. 1997;17:1–25
-
.
Hirschsprung disease, associated syndromes and genetics (A review).
J Med Genet. 2001;38:729–739
- . Hemimegalencephaly and Hirschsprung’s disease (A unique association). Pediatr Neurol. 1998;18:452–455
- . Hirschsprung megacolon and cleft palate in two sibs. J Craniofac Genet Dev Biol. 1981;1:185–189
- . Goldberg-Shprinzen syndrome (Hirschsprung’s disease, hypotonia and ptosis in sibs). Am J Med Genet. 1991;41:188–191
- . Hirschsprung disease, unusual face, mental retardation, epilepsy and congenital heart disease (Goldberg-Shprinzen syndrome). Pediatr Neurol. 1993;9:479–481
- . Magnetic resonance imaging of the brain in Goldberg-Shprinzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma). Am J Med Genet. 1997;73:230–232
- . Goldberg-Shprinzen syndrome (A report of a new family and review of the literature). Clin Dysmorphol. 1998;7:97–101
- A consanguinous family with Hirschsprung’s disease, microcephaly, and mental retardation (Goldberg-Shprinzen syndrome). J Med Genet. 1999;36:485–489
- Congenital failure of autonomic control of ventilation, gastrointestinal motility and heart rate. Medicine. 1978;57:517–526
- . Total agangliosis of the colon (Hirschsprung’s disease) and congenital failure of automatic control of ventilation (Ondine’s curse). Acta Paediatr Scand. 1981;70:121–124
- . Ondine curse and neurocristopathy. Pediatr Neurol. 1987;3:370–372
- . Congenital central hypoventilation syndrome and Hirschsprung’s disease in half sibs. J Med Genet. 1989;26:272–274
- . Hirschsprung’s disease and Ondine’s curse (Further evidence for a distinct syndrome). Clin Genet. 1989;36:200–203
- Ondine-Hirschsprung syndrome (Haddad syndrome) (Further delineation in two cases and review of the literature). Eur J Pediatr. 1993;152:75–77
- . Hirschsprung’s disease associated with Ondine’s curse (Report of three cases and review of the literature). J Pediatr Surg. 1994;29:530–535
- . Hirschsprung’s disease associated with Ondine’s Curse (A special subgroup?). J Pediatr Surg. 1995;30:1481–1484
- . Congenital central hypoventilation syndrome and Hirschsprung disease. Arch Dis Child. 1998;78:316–322
- . Hirschsprung’s disease, Ondine’s curse, and neuroblastoma-manifestations of neurocristopathy. Pediatr Radiol. 1988;19:45–49
- . Ondines’s curse and Hirschsprung’s disease (Neurocristopathic syndrome). Eur J Pediatr Surg. 1999;9:430–432
- . Tonic pupil associated with congenital neuroblastoma, Hirschsprung’s disease, and central hypoventilation syndrome. Am J Ophthalmol. 2000;130:238–240
- . Congenital central hypoventilation syndrome associated with Hirschsprung’s disease and neuroblastoma (Case of multiple neurocristopathies). Pediatr Pulmonol. 2002;33:71–76
- . Cerebral arteriovenous malformation, Ondine’s curse, and Hirschsprung’s disease. Dev Med Child Neurol. 1990;32:1087–1089
- . The complete spectrum of neurocristopathy in an infant with congenital hypoventilation, Hirschsprung’s disease, and neuroblastoma. J Pediatr Surg. 1995;30:1218–1221
- . Neonatal Hirschsprung’s disease, dysautonomia, and central hypoventilation syndrome. Obstet Gynecol. 1999;93:834–836
- Autonomic dysfunction in children with Hirschsprung’s disease. Dig Dis Sci. 1999;44:960–965
- . Hirschsprung’s disease (A more generalized myopathy?). J Pediatr Surg. 2001;36:296–300
-
Le DuarineN, Kalcheim C. The neural crest. Cambridge, UK: Cambridge University Press, 1999
-
.
Segregation of cell lineage in neural crest.
Curr Opin Genet Dev. 1993;3:41–47
- . Familial occurrence of neuroblastoma, von Recklinghausen’s neurofibromatosis, Hirschsprung’s agangliosis, and jaw-winking syndrome. Acta Paediatr Scand. 1989;78:736–741
- . Waardenburg-Hirschsprung disease in two sisters (A possible clue to the genetics of this association?). Eur J Pediatr Surg. 1996;6:245–248
- . Hirschsprung’s disease associated with severe cartilage-hair hypoplasia. J Pediatr. 2001;138:929–931
- . Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung’s disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptochidism, and kidney dysplasia/hypoplasia (BRESEK/BRESHECK) (New X-linked syndrome?). Am J Med Genet. 1997;68:386–390
- . Unknown syndrome (Hirschsprung’s disease, microcephaly, and iris coloboma: A new syndrome of defective neuronal migration). J Med Genet. 1988;25:494–500
-
.
Bilateral iris sector heterochromia with or without Hirschsprung’s disease.
Eye. 1998;12(Pt 6):1024–1027
- . Imperforate anus, Hirschsprung’s disease, and trisomy 21 (A rare combination). J Pediatr Surg. 1999;34:1874
- . Hirschsprung’s disease (Genetic and functional associations of Down’s syndrome and Waardenburg syndromes). Semin Pediatr Surg. 1998;7:156–161
- . Hirschsprung’s disease, colonic atresia, and absent hand (A new triad). J Pediatr Surg. 1997;32:1368–1370
- . A new syndrome (Heart defects, laryngeal anomalies, preaxial polydactyly, and colonic agangliosis in sibs). Genet Med. 1999;1:104–108
- . Pathogenesis of Hirschsprung’s disease. J Pediatr Surg. 2000;35:1017–1025
- . Hirschsprung-associated congenital anomalies. Eur J Pediatr Surg. 1997;7:331–337
-
.
Hydrocephalus and Hirschsprung’s disease in a patient with a mutation of L1CAM.
Am J Genet. 1997;34:670–671
- A patient with tetrasomy 9p, Dandy-Walker cyst and Hirschsprung disease. Ann Genet. 1992;35:79–84
- . Agenesis of the corpus callosum, hypertrophic pyloric stenosis and Hirschsprung’s disease (Coincidence or common etiology?). Neuropediatrics. 1996;27:204–206
- . Familial patterns of central nervous system dysfunction, growth deficiency, facial clefts and congenital megacolon (A specific disorder?). Am J Med Genet. 1988;31:465; 446
- Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features (Delineation and identification of a locus at chromosome 2q22-q23). J Med Genet. 1998;35:617–623
- . Novel insights into congenital hypoventilation syndrome. Curr Opin Pulm Med. 1999;5:335–338
- Loss-of-function mutation in SIP1 Smad interacting protein 1 result in syndromic Hirschsprung disease. Hum Mol Genet. 2001;10:1503–1510
- . Neuropathologic research strategies in holoprosencephaly. J Child Neurol. 2001;16:918–931
PII: S0887-8994(03)00010-9
doi: 10.1016/S0887-8994(03)00010-9
© 2003 Elsevier Inc. All rights reserved.
« Previous
Next »
Pediatric Neurology
Volume 28, Issue 5
, Pages 385-391
, May 2003
