Literature DB >> 2418189

Further delineation of Weaver syndrome.

H H Ardinger, J W Hanson, M J Harrod, M M Cohen, J A Tibbles, J P Welch, T Young-Wee, A Sommer, R Goldberg, R J Shprintzen.   

Abstract

Seven new cases of Weaver syndrome are described, including the first reported case in an adult. Overgrowth is usually but not always present. The combination of characteristic facies and developmental delay, with the peculiar radiographic findings of accelerated dysharmonic osseous maturation and splaying of the distal long bones, is diagnostic of Weaver syndrome.

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Year:  1986        PMID： 2418189     DOI： 10.1016/s0022-3476(86)80988-x

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  7 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.  Sotos syndrome: a study of the diagnostic criteria and natural history.

Authors:  T R Cole; H E Hughes
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

3.  Autosomal dominant inheritance of Weaver syndrome.

Authors:  A Fryer; C Smith; L Rosenbloom; T Cole
Journal:  J Med Genet       Date:  1997-05       Impact factor: 6.318

4.  Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome.

Authors:  C J van Asperen; W C Overweg-Plandsoen; M H Cnossen; D A van Tijn; R C Hennekam
Journal:  J Med Genet       Date:  1998-04       Impact factor: 6.318

5.  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.  A case of Marshall-Smith or Weaver syndrome.

Authors:  R L Smyth; J D Gould; M Baraitser
Journal:  J R Soc Med       Date:  1989-11       Impact factor: 18.000

7.  Anesthetic management of a patient with Weaver syndrome undergoing emergency evacuation of extra-dural hematoma: A case report and review of the literature.

Authors:  R S Khokhar; Msm Hajnour; M Aqil; A H Al-Saeed; S Qureshi
Journal:  Saudi J Anaesth       Date:  2016 Jan-Mar
  7 in total

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