Literature DB >> 7450780

The "happy puppet" syndrome in two siblings.

Y Kuroki, I Matsui, Y Yamamoto, A Ieshima.   

Abstract

Two siblings with the "happy puppet" syndrome are presented. Their clinical features are quite similar and closely resemble those of previously reported cases. These features include severe mental retardation, epileptic seizures, easily provoked and prolonged paroxysms of laughter, atactic jerky movements, hypotonia, large mandible with prognathia, and 2-3 cps spike and wave activity in the EEG. The occurrence of this syndrome in the two siblings suggests a genetic etiology possible as an autosomal recessive trait.

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Year:  1980        PMID： 7450780     DOI： 10.1007/bf00295701

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  4 in total

1.  [Happy-puppet syndrome].

Authors:  S Pelc; J Levy; G Point
Journal:  Helv Paediatr Acta       Date:  1976-08

2.  The "happy puppet" syndrome: two new cases and a review of five previous cases.

Authors:  J R Moore; P M Jeavons
Journal:  Neuropadiatrie       Date:  1973-04

3.  Angelman's ("happy puppet") syndrome.

Authors:  J M Berg; Z Pakula
Journal:  Am J Dis Child       Date:  1972-01

4.  The "happy puppet" syndrome.

Authors:  B D Bower; P M Jeavons
Journal:  Arch Dis Child       Date:  1967-06       Impact factor: 3.791
  4 in total
  9 in total

1.  Angelman's syndrome.

Authors:  J Clayton-Smith
Journal:  Arch Dis Child       Date:  1992-07       Impact factor: 3.791

2.  Angelman's syndrome: a neuropathological study.

Authors:  T Kyriakides; L A Hallam; A Hockey; P Silberstein; B A Kakulas
Journal:  Acta Neuropathol       Date:  1992       Impact factor: 17.088

3.  The association of Angelman's syndrome with deletions within 15q11-13.

Authors:  M Pembrey; S J Fennell; J van den Berghe; M Fitchett; D Summers; L Butler; C Clarke; M Griffiths; E Thompson; M Super
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318

4.  The 'happy puppet' syndrome of Angelman: review of the clinical features.

Authors:  S A Robb; K R Pohl; M Baraitser; J Wilson; E M Brett
Journal:  Arch Dis Child       Date:  1989-01       Impact factor: 3.791

Review 5.  Angelman ("happy puppet") syndrome--seven new cases documented by cerebral computed tomography: review of the literature.

Authors:  A Dörries; H L Spohr; J Kunze
Journal:  Eur J Pediatr       Date:  1988-12       Impact factor: 3.183

6.  Regional cerebral blood flow in Angelman syndrome.

Authors:  K Gücüyener; N Gökçora; N Ilgin; N Buyan; A Sayli
Journal:  Eur J Nucl Med       Date:  1993-07

7.  Molecular study of chromosome 15 in 22 patients with Angelman syndrome.

Authors:  J Beuten; K Mangelschots; I Buntinx; P Coucke; O F Brouwer; R C Hennekam; C Van Broeckhoven; P J Willems
Journal:  Hum Genet       Date:  1993-01       Impact factor: 4.132

8.  Angelman (happy puppet) syndrome in a girl and her brother.

Authors:  J A Fisher; J Burn; F W Alexander; D Gardner-Medwin
Journal:  J Med Genet       Date:  1987-05       Impact factor: 6.318

9.  The EEG in early diagnosis of the Angelman (happy puppet) syndrome.

Authors:  S G Boyd; A Harden; M A Patton
Journal:  Eur J Pediatr       Date:  1988-06       Impact factor: 3.183
  9 in total

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