Literature DB >> 8489799

Mental retardation, macrostomia and hyperpnoea syndrome.

H A Singh1.   

Abstract

A syndrome with the triad of abnormalities of mental retardation, wide mouth and intermittent overbreathing is described, which has all the features of the syndrome previously described by Pitt and Hopkins. Pitt and Hopkins published two cases that bear close resemblance to each other, each having an abnormal respiratory rhythm. Both had an unusually wide mouth and palate, thick fleshy lips, broad-beaked nose, finger clubbing and abnormal electroencephalograms. This paper discusses a client living in a hostel for intellectually handicapped people who has all these features.

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Year:  1993        PMID: 8489799     DOI: 10.1111/j.1440-1754.1993.tb00472.x

Source DB:  PubMed          Journal:  J Paediatr Child Health        ISSN: 1034-4810            Impact factor:   1.954


  6 in total

1.  Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation.

Authors:  Grazia Taddeucci; Alice Bonuccelli; Ilaria Mantellassi; Alessandro Orsini; Enrico Tarantino
Journal:  Ital J Pediatr       Date:  2010-02-02       Impact factor: 2.638

2.  The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions.

Authors:  Minire Hasi; Bridgette Soileau; Courtney Sebold; Annice Hill; Daniel E Hale; Louise O'Donnell; Jannine D Cody
Journal:  Hum Genet       Date:  2011-06-14       Impact factor: 4.132

3.  Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.

Authors:  Jeanne Amiel; Marlene Rio; Loic de Pontual; Richard Redon; Valerie Malan; Nathalie Boddaert; Perrine Plouin; Nigel P Carter; Stanislas Lyonnet; Arnold Munnich; Laurence Colleaux
Journal:  Am J Hum Genet       Date:  2007-03-23       Impact factor: 11.025

4.  Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

Authors:  Christiane Zweier; Maarit M Peippo; Juliane Hoyer; Sergio Sousa; Armand Bottani; Jill Clayton-Smith; William Reardon; Jorge Saraiva; Alexandra Cabral; Ina Gohring; Koen Devriendt; Thomy de Ravel; Emilia K Bijlsma; Raoul C M Hennekam; Alfredo Orrico; Monika Cohen; Alexander Dreweke; Andre Reis; Peter Nurnberg; Anita Rauch
Journal:  Am J Hum Genet       Date:  2007-03-23       Impact factor: 11.025

5.  Pitt-Hopkins Syndrome.

Authors:  M Peippo; J Ignatius
Journal:  Mol Syndromol       Date:  2011-12-29

Review 6.  Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge.

Authors:  Giuseppe Marangi; Marcella Zollino
Journal:  J Pediatr Genet       Date:  2015-09-25
  6 in total

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