Literature DB >> 9028445

Autosomal dominant and sporadic radio-ulnar synostosis.

R Rizzo1, V Pavone, G Corsello, G Sorge, G Neri, J M Opitz.   

Abstract

We report on seven cases of congenital radio-ulnar synostosis (RUS). Five were found in the same family and two were sporadic. In six the synostosis was bilateral and consistently involved the proximal end of the radius and ulna. In the familial cases the anomaly was inherited as an autosomal dominant trait and was associated with a Dubois sign and relative shortness of metacarpals number 4 and 5 in two patients, and of number 2 in another patient, and of all phalanges of the 5th fingers. These observations suggest involvement of an ulnar developmental field. RUS does not seem to be rare in the Sicilian population.

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Mesh:

Year:  1997        PMID: 9028445

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  6 in total

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Authors:  Amanda Walne; Hemanth Tummala; Alicia Ellison; Shirleny Cardoso; Jasmin Sidhu; Gabriela Sciuccati; Tom Vulliamy; Inderjeet Dokal
Journal:  Haematologica       Date:  2018-03-08       Impact factor: 9.941

Review 2.  Radiographic assessment of congenital malformations of the upper extremity.

Authors:  Matthew J Winfeld; Hansel Otero
Journal:  Pediatr Radiol       Date:  2016-06-15

3.  The developmental spectrum of proximal radioulnar synostosis.

Authors:  Alison M Elliott; Lisa Kibria; Martin H Reed
Journal:  Skeletal Radiol       Date:  2010-01       Impact factor: 2.199

4.  BMPR1B mutation causes Pierre Robin sequence.

Authors:  Yongjia Yang; Jianying Yuan; Xu Yao; Rong Zhang; Hui Yang; Rui Zhao; Jihong Guo; Ke Jin; Haibo Mei; Yongqi Luo; Liu Zhao; Ming Tu; Yimin Zhu
Journal:  Oncotarget       Date:  2017-04-18

5.  Congenital proximal radioulnar synostosis-a case report.

Authors:  Iseko Kingsley Iyoko; Iseko Iseko Iyoko; Meraiyebu Aminyene Essien; Jimmy Emem Henshaw
Journal:  Radiol Case Rep       Date:  2020-06-23

6.  A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis.

Authors:  Fang Shen; Yongjia Yang; Pengcheng Li; Yu Zheng; Zhenqing Luo; Yuyan Fu; Guanghui Zhu; Haibo Mei; Shanlin Chen; Yimin Zhu
Journal:  Mol Genet Genomic Med       Date:  2021-12-24       Impact factor: 2.183

  6 in total

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