Literature DB >> 2654399

Congenital central hypoventilation syndrome and Hirschsprung's disease in half sibs.

J Hamilton1, J N Bodurtha.   

Abstract

We report two infants with congenital central hypoventilation syndrome and Hirschsprung's disease who have the same father but different mothers. The genetic implications of these cases are discussed.

Entities:  

Mesh：

Year:  1989        PMID： 2654399      PMCID： PMC1017302          DOI： 10.1136/jmg.26.4.272

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  9 in total

1.  Failure of automatic control of ventilation (Ondine's curse). Report of an infant born with this syndrome and review of the literature.

Authors:  R B Mellins; H H Balfour; G M Turino; R W Winters
Journal:  Medicine (Baltimore)       Date:  1970-11       Impact factor: 1.889

2.  Ondine's curse and neurocristopathy.

Authors:  R J Bower; J C Adkins
Journal:  Clin Pediatr (Phila)       Date:  1980-10       Impact factor: 1.168

3.  Fibromuscular dysplasia of arteries in Hirschsprung's disease.

Authors:  T Taguchi; K Tanaka; K Ikeda
Journal:  Gastroenterology       Date:  1985-05       Impact factor: 22.682

4.  Congenital central alveolar hypoventilation syndrome in six infants.

Authors:  C Guilleminault; J McQuitty; R L Ariagno; M J Challamel; R Korobkin; R E McClead
Journal:  Pediatrics       Date:  1982-11       Impact factor: 7.124

5.  Inability of neural crest cells to colonize the presumptive aganglionic bowel of ls/ls mutant mice: requirement for a permissive microenvironment.

Authors:  R J Jacobs-Cohen; R F Payette; M D Gershon; T P Rothman
Journal:  J Comp Neurol       Date:  1987-01-15       Impact factor: 3.215

6.  Development profile of neuron-specific enolase in human gut and its implications in Hirschsprung's disease.

Authors:  P K Tam; J Lister
Journal:  Gastroenterology       Date:  1986-06       Impact factor: 22.682

7.  Diaphragmatic pacing in infants: techniques and results.

Authors:  M N Ilbawi; F S Idriss; C E Hunt; R T Brouillette; S Y DeLeon
Journal:  Ann Thorac Surg       Date:  1985-10       Impact factor: 4.330

8.  Total aganglionosis of the colon (Hirschsprung's disease) and congenital failure of automatic control of ventilation (Ondine's curse).

Authors:  M Stern; H H Hellwege; L Grävinghoff; W Lambrecht
Journal:  Acta Paediatr Scand       Date:  1981-01

9.  Congenital failure of automatic control of ventilation, gastrointestinal motility and heart rate.

Authors:  G G Haddad; N M Mazza; R Defendini; W A Blanc; J M Driscoll; M A Epstein; R A Epstein; R B Mellins
Journal:  Medicine (Baltimore)       Date:  1978-11       Impact factor: 1.889
  9 in total
  12 in total

1.  Congenital central hypoventilation syndrome: four families.

Authors:  Amit Trivedi; Karen Waters; Sadasivam Suresh; Rashmi Nair
Journal:  Sleep Breath       Date:  2010-11-14       Impact factor: 2.816

2.  Haddad syndrome--congenital central hypoventilation associated with Hirschsprung's disease.

Authors:  Susan D'Souza; R P Khubchandani
Journal:  Indian J Pediatr       Date:  2003-07       Impact factor: 1.967

3.  A genetic study of Hirschsprung disease.

Authors:  J A Badner; W K Sieber; K L Garver; A Chakravarti
Journal:  Am J Hum Genet       Date:  1990-03       Impact factor: 11.025

Review 4.  Hirschsprung's disease as a neurochristopathy.

Authors:  G Martucciello
Journal:  Pediatr Surg Int       Date:  1997       Impact factor: 1.827

5.  PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.

Authors:  Delphine Trochet; Louise M O'Brien; David Gozal; Ha Trang; Agneta Nordenskjöld; Béatrice Laudier; Pär-Johan Svensson; Sabine Uhrig; Trevor Cole; Stephan Niemann; Arnold Munnich; Claude Gaultier; Stanislas Lyonnet; Jeanne Amiel
Journal:  Am J Hum Genet       Date:  2005-01-18       Impact factor: 11.025

6.  Central Alveolar Hypoventilation Syndromes.

Authors:  Hiren Muzumdar; Raanan Arens
Journal:  Sleep Med Clin       Date:  2008-12-01

Review 7.  Congenital central hypoventilation syndrome and Hirschsprung's disease.

Authors:  G D Croaker; E Shi; E Simpson; T Cartmill; D T Cass
Journal:  Arch Dis Child       Date:  1998-04       Impact factor: 3.791

8.  Molecular analysis of congenital central hypoventilation syndrome.

Authors:  Ayako Sasaki; Masayo Kanai; Kazuki Kijima; Kazuhiro Akaba; Motoya Hashimoto; Hisaya Hasegawa; Shinsuke Otaki; Takenobu Koizumi; Satoshi Kusuda; Youhei Ogawa; Keiji Tuchiya; Wakako Yamamoto; Tomohiko Nakamura; Kiyoshi Hayasaka
Journal:  Hum Genet       Date:  2003-10-18       Impact factor: 4.132

Review 9.  Ondine-Hirschsprung syndrome (Haddad syndrome). Further delineation in two cases and review of the literature.

Authors:  A Verloes; C Elmer; D Lacombe; C Heinrichs; E Rebuffat; J L Demarquez; A Moncla; E Adam
Journal:  Eur J Pediatr       Date:  1993-01       Impact factor: 3.183

Review 10.  Congenital central hypoventilation syndrome: a bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and quality of life.

Authors:  Debra E Weese-Mayer; Casey M Rand; Amy Zhou; Michael S Carroll; Carl E Hunt
Journal:  Pediatr Res       Date:  2016-09-27       Impact factor: 3.756
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