Achondroplasia: a comprehensive clinical review

Pauli, Richard M.

doi:10.1186/s13023-018-0972-6

Cited by 350 publications

(458 citation statements)

References 349 publications

(514 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%

“…The health services provided should be based on recommendations from research evidence . Despite achondroplasia being one of the best described skeletal dysplasias, known for centuries, the research field needs to be brought forward in a way that makes topics, methodology and findings stronger and relevant for implementing in clinical practice. Several large multicenter natural history studies on adults with achondroplasia have recently been initiated (https://clinicaltrials.gov), including a natural history registry .…”

Section: Discussionmentioning

confidence: 99%

“…Several authors have reviewed the existing literature regarding children (0‐16 years) with achondroplasia, and have proposed recommendations for follow‐up and surveillance . This includes a comprehensive review recently (2019) published by Pauli . We have not identified previous systematic reviews specifically focusing on medical complications, health characteristics, and psychosocial issues in adults with achondroplasia.…”

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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“…Our findings related to associated anomalies are not readily comparable with other studies that were mainly based on case series. Hydrocephalus in the neonatal period is very rare for infants with achondroplasia, and a later hydrocephalus diagnoses is most likely based either on the presence of benign macrocephaly or equally benign ventriculomegaly (Pauli, ).…”

Section: Discussionmentioning

confidence: 99%

Epidemiology of achondroplasia: A population‐based study in Europe

Coi

Santoro

Garne

et al. 2019

American J of Med Genetics Pt A

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Achondroplasia is a rare genetic disorder resulting in short-limb skeletal dysplasia.We present the largest European population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. All cases of achondroplasia notified to 28 EUROCAT registries were included in the study. Prevalence, birth outcomes, prenatal diagnosis, associated anomalies, and the impact of paternal and maternal age on de novo achondroplasia were presented. The study population consisted of 434 achondroplasia cases with a prevalence of 3.72 per 100,000 births (95%CIs: 3.14-4.39). There were 350 live births, 82 terminations of pregnancy after prenatal diagnosis, and two fetal deaths. The prenatal detection rate was significantly higher in recent years (71% in 2011-2015 vs. 36% in 1991-1995). Major associated congenital anomalies were present in 10% of cases. About 20% of cases were familial. After adjusting for maternal age, fathers >34 years had a significantly higher risk of having infants with de novo achondroplasia than younger fathers. Prevalence was stable over time, but regional differences were observed. All pregnancy outcomes were included in the prevalence estimate with 80.6% being live born. The study confirmed the increased risk for older fathers of having infants with de novo achondroplasia. K E Y W O R D Sachondroplasia, epidemiology, EUROCAT, paternal age, prevalence, skeletal dysplasia

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Improvement in ventriculomegaly following cervicomedullary decompressive surgery in children with achondroplasia and foramen magnum stenosis

Kashanian

Chan

Mukherjee

et al. 2020

American J of Med Genetics Pt A

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The role of cervicomedullary decompression (CMD) in the care of hydrocephalic achondroplastic children who present with simultaneous foramen magnum stenosis is not well understood. We sought to determine the percentage of symptomatic achondroplastic children with foramen magnum stenosis who had stabilization or improvement in ventriculomegaly following CMD. The authors retrospectively reviewed the records of pediatric patients at Cedars‐Sinai Medical Center with achondroplasia and signs of progressive ventriculomegaly who underwent CMD for symptomatic foramen magnum stenosis between the years 2000 and 2018. Clinical outcomes included changes in fontanelle characteristics, head circumference (HC) percentile, and incidence of ventriculoperitoneal (VP) shunting. Radiographic outcomes measured included changes in Evans ratio. We excluded individuals who were shunted before CMD from our study. Sixteen children presented with symptomatic foramen magnum stenosis and full anterior fontanelle or jump in the HC percentiles. Two children underwent placement of a VP shunt before decompressive surgery and were excluded from further analysis. Of the remaining 14 children who underwent CMD, 13 (93%) showed softening or flattening of their fontanelles post‐operatively. Ten of these 14 children had both pre‐ and post‐operative HC percentile records available, with 8 showing increasing HC percentiles before surgery. Seven of those eight children (88%) showed a deceleration or stabilization of HC growth velocity following decompression of the foramen magnum. Among 10 children with available pre‐ and post‐operative brain imaging, ventricular size improved in 5 (50%), stabilized in 2 (20%), and slightly increased in 3 (30%) children after decompression. Two children (14%) required a shunt despite decompression of the foramen magnum. A significant proportion of children with concomitant signs of raised intracranial pressure or findings of progressive ventriculomegaly and foramen magnum stenosis may have improvement or stabilization of these findings following CMD. CMD may decrease the need for VP shunting and its associated complications in the select group of hydrocephalic children with achondroplasia presenting with symptomatic foramen magnum stenosis.

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Achondroplasia: a comprehensive clinical review

Cited by 350 publications

References 349 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

Epidemiology of achondroplasia: A population‐based study in Europe

Improvement in ventriculomegaly following cervicomedullary decompressive surgery in children with achondroplasia and foramen magnum stenosis

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