Achondroplasia: a comprehensive clinical review
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(2019) 14:1
REVIEW
Open Access
Achondroplasia: a comprehensive clinical review Richard M. Pauli
Abstract 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. Keywords: Achondroplasia, FGFR3, Skeletal dysplasia, Natural history, Care guidelines
Introduction Explicit guidelines for care of individuals with achondroplasia are available. Such guidelines were first developed by the American Academy of Pediatrics in 1995 and revised in 2005 [1]. These are now again somewhat out of date. Other care guidelines (for example see [2– 4]) and clinically oriented reviews (such as [5–7]) are also available. However, none of these explores in detail the bases for recommendations and the uncertainties that exist. Therefore, this review is intended as both an updated discussion of care needs in achondroplasia and a platform for exploration of the evidence for recommendations, current controversies and areas of current ignorance (which are many). As is the case for virtually all uncommon or rare genetic disorders, the level of evidence for care recommendations in achondroplasia is generally low. No controlled or blinded studies of any sort are available. Very few prospective investigations have been published (such as [8, 9] and a few others). Most care suggestions are based on retrospective series of varying size, or anecdotal information that lacks any rigorous confirmation. Both retrospective studies of large populations and selective prospective studies are much Correspondence: [email protected] Midwest Regional Bone Dysplasia Clinic, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, 1500 Highland Ave., Madison, WI 53705, USA
needed. Nonetheless, something has to be recommended for the care of affected individuals. Not surprisingly, lack of rigorous studies also results in considerable variation in the recommendations that are made. Unfortunately, this is not terribly different from much of current medical care. Some of these uncertainties will yield to studies of larger populations, as have been initiated recently [10].
History The achondroplasia phenotype has been recognized for thousands of years, as evidenced in the artifacts of many different cultures [11], and remains the most readily recognizable of the dwarfing disorders. The term seems to have been first used in
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