Current Care and Investigational Therapies in Achondroplasia

Unger, Sheila; Bonafé, Luisa; Gouze, Elvire

doi:10.1007/s11914-017-0347-2

Cited by 56 publications

(74 citation statements)

References 67 publications

(74 reference statements)

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“…Some of the excluded papers provide valuable information on adults with achondroplasia and important aspects of living with a skeletal dysplasia, but did not meet the inclusion criteria for the present scoping review. The most relevant papers are presented in Table .…”

Section: Resultsmentioning

confidence: 99%

“…A number of review papers were identified, but were excluded as they were mainly concerning children or because of their non‐systematic methodology . However, we have examined their reference lists for potential eligible original papers.…”

Section: Discussionmentioning

confidence: 99%

“…We will encourage future studies to follow reporting guidelines, as proposed by the EQUATOR network, to enhance the quality and consistency of published papers . New treatment options will affect the natural history of achondroplasia in children and adults . Good clinical descriptions of natural history are necessary for monitoring and evaluating long term outcomes in medical trials and for decision‐making regarding implementation of new treatment options.…”

Section: Discussionmentioning

confidence: 99%

“…Achondroplasia is the most common skeletal dysplasia resulting in disproportional short stature, and is in about 99% of the cases caused by a mutation (Gly380Arg) in the gene coding for the fibroblast growth factor receptor 3 ( FGFR3 ) . A high prevalence of medical complications has been reported in children with achondroplasia, including increased mortality, foramen magnum stenosis, hydrocephalus, sleep apnea, recurrent ear infections, impaired hearing, and leg and spine deformities . Several authors have reviewed the existing literature regarding children (0‐16 years) with achondroplasia, and have proposed recommendations for follow‐up and surveillance .…”

Section: Introductionmentioning

confidence: 99%

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Current knowledge of medical complications in adults with achondroplasia: A scoping review

et al. 2019

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This article provides an overview of the current knowledge on medical complications, health characteristics, and psychosocial issues in adults with achondroplasia. We have used a scoping review methodology particularly recommended for mapping and summarizing existing research evidence, and to identify knowledge gaps. The review process was conducted in accordance with the PRISMA-ScR guidelines (Preferred Reporting Items for Systematic reviews and Meta-Analyses Extension for Scoping Reviews). The selection of studies was based on criteria predefined in a review protocol. Twenty-nine publications were included; 2 reviews, and 27 primary studies. Key information such as reference details, study characteristics, topics of interest, main findings and the study author's conclusion are presented in text and tables. Over the past decades, there has only been a slight increase in publications on adults with achondroplasia. The reported morbidity rates and prevalence of medical complications are often based on a few studies where the methodology and representativeness can be questioned. Studies on sleep-related disorders and pregnancy-related complications were lacking. Multicenter natural history studies have recently been initiated. Future studies should report in accordance to methodological reference standards, to strengthen the reliability and generalizability of the findings, and to increase the relevance for implementing in clinical practice. K E Y W O R D S achondroplasia, adults, health-related quality of life, health status, medical complications, review

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Current knowledge of medical complications in adults with achondroplasia: A scoping review

et al. 2019

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“…Dominant mutations in this gene were first linked to achondroplasia (ACH; OMIM 100800), the most common form of disproportionate dwarfism in live newborns [Shiang et al, 1994;Unger et al, 2017]. Other phenotypes, such as hypochondroplasia (HCH; OMIM 146000) and thanatophoric dysplasia (TD; OMIM 187600) types I (TDI) and II (TDII) were later shown to be associated with specific mutations of that gene [Harada et al, 2009;FoldynovaTrantirkova et al, 2011].…”

mentioning

confidence: 99%

Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia

Gomes¹,

Kanazawa²,

Riba³

et al. 2018

Mol Syndromol

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Mutations in the fibroblast growth factor receptor 3 gene (FGFR3) cause achondroplasia (ACH), hypochondroplasia (HCH), and thanatophoric dysplasia types I and II (TDI/TDII). In this study, we performed a genetic study of 123 Brazilian patients with these phenotypes. Mutation hotspots of the FGFR3 gene were PCR amplified and sequenced. All cases had recurrent mutations related to ACH, HCH, TDI or TDII, except for 2 patients. One of them had a classical TDI phenotype but a typical ACH mutation (c.1138G>A) in combination with a novel c.1130T>C mutation predicted as being pathogenic. The presence of the second c.1130T>C mutation likely explained the more severe phenotype. Another atypical patient presented with a compound phenotype that resulted from a combination of ACH and X-linked spondyloepiphyseal dysplasia tarda (OMIM 313400). Next-generation sequencing of this patient's DNA showed double heterozygosity for a typical de novo ACH c.1138G>A mutation and a maternally inherited TRAPPC2 c.6del mutation. All mutations were confirmed by Sanger sequencing. A pilot study using high-resolution melting (HRM) technique was also performed to confirm several mutations identified through sequencing. We concluded that for recurrent FGFR3 mutations, HRM can be used as a faster, reliable, and less expensive genotyping test than Sanger sequencing.

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Trevor's disease of the distal radioulnar joint in two children with achondroplasia

Kopriva

Miller

Legare³

et al. 2020

American J of Med Genetics Pt A

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Two children with achondroplasia who developed an abnormal bony outgrowth at the distal radioulnar joint (DRUJ), indistinguishable from an osteochondroma on histology, but the radiographic appearance, location, and asymmetry suggested the rare diagnosis of dysplasia epiphysealis hemimelica (DEH or "Trevor's disease"). One child experienced symptomatic relief with surgical excision and one was observed clinically due to lack of significant symptoms. These are the first presented cases of DEH in achondroplasia, both affecting the DRUJ. Due to the infrequency of DEH, more research is needed to better understand the potential connection to achondroplasia.For management, we suggest shared surgical decision making based on symptoms.achondroplasia, distal radioulnar joint, dysplasia epiphysealis hemimelica, Trevor's disease

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Current Care and Investigational Therapies in Achondroplasia

Cited by 56 publications

References 67 publications

Current knowledge of medical complications in adults with achondroplasia: A scoping review

Current knowledge of medical complications in adults with achondroplasia: A scoping review

Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia

Trevor's disease of the distal radioulnar joint in two children with achondroplasia

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