Literature DB >> 991874

Laurence-Moon-Biedl syndrome (?) and Prader-Willi syndrome (?) in a single family.

M Endo, Y Tasaka, N Matsuura, I Matsuda.   

Abstract

Mental retardation, hypogonadism, obesity, and abnormal blood sugar regulation were common findings in two siblings. In addition, the 17-year-old female patient showed short stature, muscular hypotonia in infancy, and small hands with tapering fingers suggesting Prader-Willi syndrome, and the 12-year-old male patient showed retinitis pigmentosa, normal height, and normal muscular tonicity suggesting Laurence-Moon-Biedl syndrome, though polydactyly was absent. Possible consideration was discussed.

Entities:  

Mesh：

Year:  1976        PMID： 991874     DOI： 10.1007/bf00444648

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  12 in total

1.  Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree.

Authors:  C H ALSTROM; B HALLGREN; L B NILSSON; H ASANDER
Journal:  Acta Psychiatr Neurol Scand Suppl       Date:  1959

2.  Laurence-Moon-Biedl syndrome. Report of an unusual family.

Authors:  E C CICCARELLI; E S VESELL
Journal:  Am J Dis Child       Date:  1961-04

3.  Anterior pituitary function in the Prader-Labhart-Willi (PLW) syndrome.

Authors:  G Tolis; W Lewis; M Verdy; H G Friesen; S Solomon; G Pagalis; F Pavlatos; P Fessas; J G Rochefort
Journal:  J Clin Endocrinol Metab       Date:  1974-12       Impact factor: 5.958

4.  Prader-Willi syndrome in infant monozygotic twins.

Authors:  J E Brissenden; E P Levy
Journal:  Am J Dis Child       Date:  1973-07

5.  The Alström syndrome. Report of three cases with further delineation of the clinical, pathophysiological, and genetic aspects of the disorder.

Authors:  J L Goldstein; P J Fialkow
Journal:  Medicine (Baltimore)       Date:  1973-01       Impact factor: 1.889

6.  The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies.

Authors:  D Klein; F Ammann
Journal:  J Neurol Sci       Date:  1969 Nov-Dec       Impact factor: 3.181

7.  Syndrome of hypotonia-hypomentia-hypogonadism-obesity (HHHO) or Prader-Willi syndrome.

Authors:  H Zellweger; H J Schneider
Journal:  Am J Dis Child       Date:  1968-05

8.  [13 cases of Laurence-Moon-Biedl syndrome].

Authors:  M Takeuchi; K Iinuma; K Fujimori; Y Takizawa; Y Yamamura
Journal:  Nihon Shonika Gakkai Zasshi       Date:  1970-06

9.  Laurence-Moon-Bardet-Biedl syndrome in Israel.

Authors:  E N Ehrenfeld; H Rowe; E Auerbach
Journal:  Am J Ophthalmol       Date:  1970-10       Impact factor: 5.258

10.  The Prader-Labhart-Willi syndrome: review of the literature and report of nine cases.

Authors:  H G Dunn
Journal:  Acta Paediatr Scand       Date:  1968
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  4 in total

1.  Similar molecular deletions on chromosome 15q11.2 are encountered in both the Prader-Willi and Angelman syndromes.

Authors:  T A Donlon
Journal:  Hum Genet       Date:  1988-12       Impact factor: 4.132

2.  Anaesthetic management of a patient with Laurence Moon Biedl syndrome undergoing ostium primum atrial septal defect closure.

Authors:  Vithal K Dhulkhed; Akshaya N Shetti; Pavan V Dhulkhed
Journal:  Anesth Essays Res       Date:  2013 May-Aug

3.  Primary gonadal failure and precocious adrenarche in a boy with Prader-Labhart-Willi syndrome.

Authors:  B Garty; A Shuper; M Mimouni; I Varsano; R Kauli
Journal:  Eur J Pediatr       Date:  1982-11       Impact factor: 3.183

4.  Prader-Willi Syndrome after age 15 years.

Authors:  B M Laurance; A Brito; J Wilkinson
Journal:  Arch Dis Child       Date:  1981-03       Impact factor: 3.791
  4 in total

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