Hesse B, Kohler G
Department of Orthopaedic Surgery, Kantonsspital St. Gallen, Switzerland.
Clin Orthop Relat Res. 2003 Sep(414):219-27. doi: 10.1097/01.blo.0000079272.91782.b1.
The epiphyseal dysplasias are classified as osteochondral dysplasias in a heterogeneous group of skeletal dysplasias. The common feature of these hereditary conditions is short stature attributable to skeletal dysplasia at various sites. Multiple epiphyseal dysplasia and spondyloepiphyseal dysplasia are of interest to the authors, because the two syndromes are similar in their morphologic features and at first glance suggest the diagnosis of Perthes' disease. Spondyloepiphyseal dysplasia (Wiedemann-Spranger syndrome) is a disorder of growth in which there is an abnormality of enchondral ossification affecting the vertebral bodies and the epiphyses of the long bones. The two forms are the more severe congenita form (Type I), which is inherited as an autosomal dominant condition and is associated with a highly disproportional reduction in growth and severe coxa vara, and the milder tarda form which is an X-linked recessive condition, in which growth in adolescence is defective after normal childhood development. Multiple epiphyseal dysplasia is an abnormality of enchondral ossification, especially of the femoral head epiphysis, and it is an autosomal dominant condition. Depending on its severity, a distinction is made between the severe Fairbank form, the milder Ribbing form, and a mild localized Meyer form.
骨骺发育异常在一组异质性骨骼发育异常中被归类为骨软骨发育异常。这些遗传性疾病的共同特征是身材矮小，这是由不同部位的骨骼发育异常所致。作者对多发性骨骺发育异常和脊椎骨骺发育异常感兴趣，因为这两种综合征在形态学特征上相似，乍一看提示佩特兹病的诊断。脊椎骨骺发育异常（维德曼-施普朗格综合征）是一种生长障碍，其中软骨内成骨异常影响椎体和长骨的骨骺。两种类型分别是更严重的先天性类型（I型），其遗传方式为常染色体显性遗传，与生长高度不成比例的降低和严重的髋内翻有关；以及较温和的迟发型，它是一种X连锁隐性疾病，在正常儿童期发育后青春期生长出现缺陷。多发性骨骺发育异常是软骨内成骨异常，尤其是股骨头骨骺异常，它是一种常染色体显性疾病。根据其严重程度，可分为严重的费尔班克型、较温和的里宾型和轻度局限性迈耶型。
