Literature DB >> 637674

[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?].

J M Bosch-Banyeras, S Salcedo, J Lucaya, R Laverde, M Boronat, C Marti-Henneberg.   

Abstract

A child is described with accelerated bone maturation, large dysplastic ears, and hypertelorism. These are features of both the Marshall-Smith and Weaver's syndrome. The child was mentally retarded and had enlargement of the middle phalanges, features only seen in Marshall-Smith syndrome. However, there was also enlargement of the metaphyses, a characteristic of Weaver's syndrome. The possiblity that these syndromes may represent different manifestations of the same entity is discussed.

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Mesh:

Year:  1978        PMID: 637674

Source DB:  PubMed          Journal:  Arch Fr Pediatr        ISSN: 0003-9764


  6 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.  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

3.  The syndromes of Marshall and Weaver.

Authors:  N Fitch
Journal:  J Med Genet       Date:  1980-06       Impact factor: 6.318

4.  The Weaver syndrome in a girl.

Authors:  P Meinecke; E Schaefer; R Engelbrecht
Journal:  Eur J Pediatr       Date:  1983-10       Impact factor: 3.183

5.  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

6.  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

  6 in total

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