Baujat Geneviève, Legeai-Mallet Laurence, Finidori Georges, Cormier-Daire Valérie, Le Merrer Martine
Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.
Best Pract Res Clin Rheumatol. 2008 Mar;22(1):3-18. doi: 10.1016/j.berh.2007.12.008.
Achondroplasia (MIM 100800) is the most common non-lethal skeletal dysplasia. Its incidence is between one in 10,000 and one in 30,000. The phenotype is characterized by rhizomelic disproportionate short stature, enlarged head, midface hypoplasia, short hands and lordotic lumbar spine, associated with normal cognitive development. This autosomal-dominant disorder is caused by a gain-of-function mutation in the gene encoding the type 3 receptor for fibroblast growth factor (FGFR3); in more than 95% of cases, the mutation is G380R. The diagnosis is suspected on physical examination and confirmed by different age-related radiological features. Anticipatory and management care by a multidisciplinary team will prevent and treat complications, including cervical cord compression, conductive hearing loss and thoracolumbar gibbosity. Weight counselling, psychosocial guidance and professional integration programmes play an important role in the global quality of life of these patients and their families.
软骨发育不全（MIM 100800）是最常见的非致死性骨骼发育不良。其发病率在万分之一至三万分之一之间。其表型特征为近端肢体短小导致的身材不成比例矮小、头部增大、面中部发育不全、手部短小以及腰椎前凸，且认知发育正常。这种常染色体显性疾病是由成纤维细胞生长因子3型受体（FGFR3）编码基因的功能获得性突变引起的；在超过95%的病例中，该突变是G380R。通过体格检查怀疑诊断，并通过不同的与年龄相关的放射学特征得以确诊。由多学科团队进行的预期性和管理性护理将预防和治疗并发症，包括颈髓压迫、传导性听力损失和胸腰椎后凸。体重咨询、心理社会指导和职业融入计划对这些患者及其家庭的整体生活质量起着重要作用。
