Diagnostik der zervikalen Myelopathie bei einem Neugeborenen mit Achondroplasie

Weigand, N.; Jödicke, Andreas; Heckmann, Matthias; Gortner, Ludwig; Hügens-Penzel, M.; Hahn, Aleš

doi:10.1055/s-2005-836464

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Natural History and Management1

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Cited by 2 publications

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“…As already noted, if any assessment is to make a difference regarding sudden unexpected deaths, it must be completed very early in life, preferably prior to 3 months of age [123].…”

Section: Natural History and Managementmentioning

confidence: 99%

Achondroplasia: a comprehensive clinical review

Pauli¹

2019

Orphanet J Rare Dis

320

374

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Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although its clinical and radiologic phenotype has been described for more than 50 years, there is still a great deal to be learned about the medical issues that arise secondary to this diagnosis, the manner in which these are best diagnosed and addressed, and whether preventive strategies can ameliorate the problems that can compromise the health and well being of affected individuals. This review provides both an updated discussion of the care needs of those with achondroplasia and an exploration of the limits of evidence that is available regarding care recommendations, controversies that are currently present, and the many areas of ignorance that remain.

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“…As already noted, if any assessment is to make a difference regarding sudden unexpected deaths, it must be completed very early in life, preferably prior to 3 months of age [123].…”

Section: Natural History and Managementmentioning

confidence: 99%