Literature DB >> 6641769

The Weaver syndrome in a girl.

P Meinecke, E Schaefer, R Engelbrecht.   

Abstract

This paper reports the first female case of the Weaver syndrome. The prominent clinical features are gigantism, macrocephaly, and the characteristic facial dysmorphism. Hypertonia and bone maturation acceleration are somewhat less pronounced than in the formerly published cases of male patients. The etiology of the syndrome remains unclear, but if genetic, X-linked recessive inheritance can be excluded.

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Mesh：

Year:  1983        PMID： 6641769     DOI： 10.1007/BF00445673

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


  8 in total

1.  EPICANTHAL FOLDS AND THE PROBLEM OF TELECANTHUS.

Authors:  J MUSTARDE
Journal:  Trans Ophthalmol Soc U K       Date:  1963

2.  Marshall-Smith syndrome with large bifrontal diameter, broad distal femora, camptodactly, and without broad middle phalanges.

Authors:  T Shimura; Y Utsumi; S Fujikawa; H Nakamura; K Baba
Journal:  J Pediatr       Date:  1979-01       Impact factor: 4.406

3.  A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly.

Authors:  D D Weaver; C B Graham; I T Thomas; D W Smith
Journal:  J Pediatr       Date:  1974-04       Impact factor: 4.406

4.  [Acceleration of postnatal development, hypertony, enlargement of the middle phalanges and of the distal metaphyses of the femur, peculiar facies: a case of Weaver's syndrome?].

Authors:  J M Bosch-Banyeras; S Salcedo; J Lucaya; R Laverde; M Boronat; C Marti-Henneberg
Journal:  Arch Fr Pediatr       Date:  1978-02

5.  The Weaver syndrome: a rare type of primordial overgrowth.

Authors:  F Majewski; M Ranke; H Kemperdick; E Schmidt
Journal:  Eur J Pediatr       Date:  1981-11       Impact factor: 3.183

6.  Accelerated bone maturation syndrome of the Weaver type.

Authors:  P H Weisswichert; G Knapp; E Willich
Journal:  Eur J Pediatr       Date:  1981-11       Impact factor: 3.183

7.  The Weaver-Smith syndrome.

Authors:  G Gemme; E Bonioli; G Ruffa; V Lagorio
Journal:  J Pediatr       Date:  1980-12       Impact factor: 4.406

8.  The syndromes of Marshall and Weaver.

Authors:  N Fitch
Journal:  J Med Genet       Date:  1980-06       Impact factor: 6.318
  8 in total
  4 in total

1.  Weaver syndrome.

Authors:  T R Cole; N R Dennis; H E Hughes
Journal:  J Med Genet       Date:  1992-05       Impact factor: 6.318

2.  Weaver syndrome: A report of a rare genetic syndrome.

Authors:  Nitin Bansal; Amit Bansal
Journal:  Indian J Hum Genet       Date:  2009-01

3.  A girl with the Weaver syndrome.

Authors:  E M Thompson; S Hill; J V Leonard; M E Pembrey
Journal:  J Med Genet       Date:  1987-04       Impact factor: 6.318

4.  Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft für Pädiatrische Nephrologie.

Authors:  K Zerres; S Rudnik-Schöneborn; F Deget
Journal:  J Med Genet       Date:  1993-07       Impact factor: 6.318
  4 in total

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