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neurocristopathy
A developmental anomaly of the neural crest
Etiology:
- Treacher-Collins syndrome
- Neuroblastoma
- Hirschsprung's disease
- congenital central hypoventilation syndrome
- Mowat-Wilson syndrome
Pathology:
- tumors of the neural crest
Clinical manifestations:
- abnormal development
Specific
central hypoventilation syndrome; primary alveolar hypoventilation; Ondine's curse
congenital central hypoventilation syndrome; congenital failure of autonomic control; congenital Ondine curse (CCHS)
Hirschsprung disease; congenital megacolon; colonic aganglionosis; aganglionic megacolon
Mowat-Wilson syndrome; Hirschsprung disease-mental retardation syndrome
neuroblastoma
Treacher-Collins-Franceschetti syndrome
General
developmental disorder
neurologic disease
References
- http://www.biology-online.org/dictionary/Neurocristopathy
- Stovroff M, Dykes F and Teaque WG
The complete spectrum of neurocristopathy in an infant with
congenital hypoventilation, Hirschsprung's disease, and
neuroblastoma
J Pediatric Surgery 30:1218, 1995
http://www.jpedsurg.org/article/0022-3468(95)90027-6/abstract