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Survey about achondroplasia
We have designed a questionnaire with the purpose to better know the population connected to achondroplasia.
The questionnaire is optional and anonymous. The data obtained will be used for statistical purposes and to better understand the natural history of achondroplasia. Please consider answering.
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Symptomatic spinal stenosis in adults with achondroplasia

Svein Fredwall, MD, Ph.D., a healthcare professional at Sunnaas Rehabilitation Hospital, TRS National Resource Centre for Rare Disorders, Nesodden, Norway, is working on the Norwegian Adult Achondroplasia Study, and this work on symptomatic spinal stenosis in adults with achondroplasia is the first of three articles.

Best Practices in the Evaluation and Treatment of Foramen Magnum Stenosis in Achondroplasia during Infancy

In order to provide a more uniform and structured approach to the management of foramen magnum stenosis in infants with achondroplasia, the authors of this paper developed a list of 22 recommendations for this purpose. It involved a panel of 11 multidisciplinary international experts on skeletal dysplasias.

Cervical spinal cord compression in infants with achondroplasia: should neuroimaging be routine?

This paper discusses whether neuroimaging should be part of the recommended routine tests done to infants with achondroplasia, based on clinical experience, medical records and on how sensitive clinical examination, medical records and polysomnography findings alone are in identifying cord compression.

[Free Full Text] Health Supervision for Children With Achondroplasia

This paper is directed at improving healthcare for children with achondroplasia by providing guidelines for pediatricians to follow. It includes growth curves and recommendations for health supervision by age group.

[Free Full Text] Achondroplasia: a comprehensive clinical review

A paper reviewing the care needs of people with achondroplasia, the best practices and describes the achondroplastic phenotype.

[Free Full Text] Preimplantation genetic diagnosis for achondroplasia: genetics and gynaecological limits and dificulties

This paper describes the first pre-implantation genetic diagnosis (PGD) with in-vitro fertilization (IFV) in patients with achondroplasia and also discusses the "ethical and obstetrical" considerations which should be taken into account.
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