This web site uses cookies. Do you accept the use of external cookies? Yes No Know more x
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.
If you would like to take the survey later, you can click on the link at the top "Register at BA"

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

2019-06-17Medicine
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?

2019-06-17Medicine
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

2019-06-14Medicine
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

2019-06-14Medicine
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

2019-03-14Medicine
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.

[Free Full Text] Achondroplasia: Morphological change of the skull base

2017-07-23Medicine
This poster describes how the skull is formed and how it is changed by the FGFR3 mutation that causes achondroplasia.
To view this site you need Internet Explorer 8 (or a higher version)
or another internet browser.


Thank You.