Literature DB >> 6674414

[Acceleration of bone maturation and dysmorphic syndrome in 2 siblings (Marshall-Weaver syndrome)].

J Jalaguier, F Montoya, M Germain, H Bonnet.   

Abstract

This paper relates two cases of a complex syndrome with unusual facies, restricted articular movements and accelerated skeletal maturation (already present at birth) in two siblings (brother and sister). These infants died in early age: one was ten days, the other six weeks old. Clinical and radiological findings of these newborns are part of both the Marshall-Smith and the Weaver syndrome, suggesting that these syndromes are one entity. The observation of affected siblings from unaffected parents favors autosomal recessive inheritance.

Entities:  

Mesh:

Year:  1983        PMID: 6674414

Source DB:  PubMed          Journal:  J Genet Hum        ISSN: 0021-7743


  5 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.  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

3.  Precocious puberty in a case of Simpson-Golabi-Behmel syndrome with a de novo 240-kb deletion including GPC3.

Authors:  Keisuke Watanabe; Atsuko Noguchi; Ikuko Takahashi; Mamiko Yamada; Hisato Suzuki; Toshiki Takenouchi; Kenjiro Kosaki; Tsutomu Takahashi
Journal:  Hum Genome Var       Date:  2022-06-09

4.  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

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

  5 in total

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