Literature DB >> 4064364

A Weaver-like syndrome with endocrinological abnormalities in a boy and his mother.

C Stoll, P Talon, L Mengus, M P Roth, B Dott.   

Abstract

A boy and his mother had dysmorphic features and accelerated growth of prenatal onset suggestive of the Weaver syndrome. Both had endocrinologic abnormalities. The boy had very low, hGH, which did not respond to stimulation. The mother had low, non-stimulate hGH hyperprolactinemia with secondary amenorrhea and galactorrhea. This is the first report of a mother to son transmission of the condition.

Entities:  

Mesh:

Substances:

Year:  1985        PMID: 4064364     DOI: 10.1111/j.1399-0004.1985.tb00396.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  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.  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

3.  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

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

北京卡尤迪生物科技股份有限公司 © 2022-2023.