Literature DB >> 18451455

Pyle metaphyseal dysplasia.

Neerja Gupta1, Madhulika Kabra, Chandan J Das, Arun K Gupta.   

Abstract

Pyle type metaphyseal dysplasia is a rare autosomal recessive disease that primarily affects metaphyses. We report a 12 year old boy with Pyles disease. He had mild facial dysmorphism, genu valgum and wasting of legs. Skeletal radiology revealed the characteristic Erlenmeyer flask sign at distal femoral and proximal tibial metaphyses along with platyspondyly.

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Year:  2008        PMID: 18451455

Source DB:  PubMed          Journal:  Indian Pediatr        ISSN: 0019-6061            Impact factor:   1.411


  4 in total

1.  Sfrp4 repression of the Ror2/Jnk cascade in osteoclasts protects cortical bone from excessive endosteal resorption.

Authors:  Kun Chen; Pei Ying Ng; Ruiying Chen; Dorothy Hu; Shawn Berry; Roland Baron; Francesca Gori
Journal:  Proc Natl Acad Sci U S A       Date:  2019-06-25       Impact factor: 12.779

2.  Pyle disease (metaphyseal dysplasia) presenting in two adult sisters.

Authors:  Diego Ximenes Soares; Amália Mapurunga Almeida; André Rodrigues Façanha Barreto; Ilze Jucá Alencar E Silva; José Daniel Vieira de Castro; Francisco José Magalhães Pinto; Daniel Aguiar Dias; Lindenberg Barbosa Aguiar
Journal:  Radiol Case Rep       Date:  2016-11-01

3.  Metaphyseal dysplasia associated with chronic facial nerve palsy.

Authors:  Loucas Christodoulou; Efterpi Pavlidou; Cristina Spyridou; Simon Eccles; Alistair Calder; Kshitij Mankad; Maria Kinali
Journal:  Childs Nerv Syst       Date:  2016-02-04       Impact factor: 1.475

4.  The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings.

Authors:  Anna Sowińska-Seidler; Paweł Sztromwasser; Katarzyna Zawadzka; Dawid Sielski; Ewelina Bukowska-Olech; Paweł Zawadzki; Kazimierz Kozłowski; Aleksander Jamsheer
Journal:  Front Genet       Date:  2020-10-23       Impact factor: 4.599

  4 in total

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