Natural history of achondroplasia: A retrospective review of longitudinal clinical data.

História natural da acondroplasia: Uma revisão retrospectiva de dados clínicos longitudinais.

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ID: 113438
2020
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Abstract
There are limited data on the longitudinal frequency and severity of the symptoms and complications of achondroplasia. We undertook a retrospective electronic chart review of 114 patients to develop a more thorough understanding of the lifetime impact of achondroplasia. Craniocervical stenosis (involving the foramen magnum with or without cervical vertebrae C1 and/or C2) was noted in nearly 50% of patients with craniovertebral junction imaging; however, corrective decompression surgery was only needed in 6% of patients. No children in our cohort died at 4 years of age or under. Kyphosis was present in most patients but usually resolved in early childhood. Cervical and lumbar stenosis were diagnosed in children and adults while, genu varum, elbow contractures, and radial head dislocations were identified during childhood. Central sleep apnea and obstructive sleep apnea were present in children, while the diagnosis of obstructive sleep apnea was shown to recur in adulthood. Cardiovascular risk factors were present in only 7% of patients. A range of mental health disorders were identified, with most diagnoses being made before 18 years of age. Our data show that achondroplasia has a significant impact on patients' physical health, and complications continue to be reported and require intervention throughout patients' lifetimes. This highlights the need for continuous support beyond pediatric care, by adult care clinicians experienced with managing the long-term complications of achondroplasia.
Existem dados limitados sobre a frequência e a gravidade longitudinais dos sintomas e complicações da acondroplasia. Realizamos uma revisão retrospectiva de prontuários eletrônicos de 114 pacientes para obter uma compreensão mais aprofundada do impacto da acondroplasia ao longo da vida. A estenose craniocervical (envolvendo o forame magno com ou sem as vértebras cervicais C1 e/ou C2) foi observada em quase 50% dos pacientes submetidos a exames de imagem da junção craniovertebral; no entanto, a cirurgia descompressiva corretiva foi necessária em apenas 6% dos pacientes. Nenhuma criança da nossa coorte foi a óbito com idade igual ou inferior a 4 anos. A cifose esteve presente na maioria dos pacientes, mas geralmente regrediu no início da infância. Estenoses cervical e lombar foram diagnosticadas em crianças e adultos, ao passo que *genu varum*, contraturas de cotovelo e luxações da cabeça do rádio foram identificados durante a infância. Apneia central do sono e apneia obstrutiva do sono estiveram presentes em crianças, enquanto o diagnóstico de apneia obstrutiva do sono demonstrou recorrência na idade adulta. Fatores de risco cardiovascular estiveram presentes em apenas 7% dos pacientes. Diversos transtornos de saúde mental foram identificados, com a maioria dos diagnósticos sendo estabelecida antes dos 18 anos de idade. Nossos dados demonstram que a acondroplasia exerce um impacto significativo na saúde física dos pacientes, e complicações continuam a ser relatadas e a requerer intervenções ao longo de toda a vida. Isso ressalta a necessidade de suporte contínuo além dos cuidados pediátricos, conduzido por médicos de cuidados com adultos com experiência no manejo das complicações a longo prazo da acondroplasia.
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okenfuss2020naturalamerican Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
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Journal american journal of medical genetics part a
Year 2020
DOI
10.1002/ajmg.a.61825
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