Literature DB >> 29185944

Achondroplasia: Etiology, Clinical Presentation, and Management.

Allyson Daugherty.   

Abstract

By using a literature review, this article examines the implications of achondroplasia. The following areas are discussed: the clinical definition of the disease; the incidence, etiology, and pathogenesis; phenotypical characteristics and natural history of the disease; and management, recurrence risk, and genetic counseling. Lastly, implications for nursing in relation to achondroplasia are discussed.

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Mesh:

Year:  2017        PMID: 29185944     DOI: 10.1891/0730-0832.36.6.337

Source DB:  PubMed          Journal:  Neonatal Netw        ISSN: 0730-0832


  5 in total

1.  Results through skeletal maturity of planned fibular nonunion for the treatment of genu varum in achondroplasia: An observational retrospective study.

Authors:  Dennis S Weiner; Gabriel J M Mirhaidari; Melanie A Morscher; M David Gothard; Mark J Adamczyk
Journal:  Medicine (Baltimore)       Date:  2019-11       Impact factor: 1.817

2.  A novel missense COL10A1 mutation: c.2020G>A; p. Gly674Arg linked with the bowed legs stature in the Schmid metaphyseal chondrodysplasia-affected Chinese lineage.

Authors:  Qiong Chen; Sheng-Nan Wu; Yong-Xing Chen; Selvaa Kumar C; Lu Zhang; Hai-Yan Wei; Senthil Arun Kumar
Journal:  Bone Rep       Date:  2019-12-13

3.  Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients.

Authors:  Juan Llerena; Chong Ae Kim; Virginia Fano; Pablo Rosselli; Paulo Ferrez Collett-Solberg; Paula Frassinetti Vasconcelos de Medeiros; Mariana Del Pino; Débora Bertola; Charles Marques Lourenço; Denise Pontes Cavalcanti; Têmis Maria Félix; Antonio Rosa-Bellas; Norma Teresa Rossi; Fanny Cortes; Flávia Abreu; Nicolette Cavalcanti; Maria Cecilia Hervias Ruz; Wagner Baratela
Journal:  BMC Pediatr       Date:  2022-08-19       Impact factor: 2.567

4.  Successful Mechanical Thrombectomy Using Solumbra Technique In a 35-year-old Man With Achondroplasia: a case report.

Authors:  Jun-Soo Cho; Sang-Uk Kim; Hyun-Jeong Kim; Ji-Ho Yang; Il-Woo Lee; Hyung-Jin Lee
Journal:  J Cerebrovasc Endovasc Neurosurg       Date:  2019-03-31

5.  Real-time ultrasound-guided epidural anesthesia for cesarean section in a parturient with achondroplasia.

Authors:  Xueqin Cao; Wenchao Yang; Wei Mei
Journal:  J Int Med Res       Date:  2021-06       Impact factor: 1.671

  5 in total

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