Spranger J W
Postgrad Med J. 1977 Aug;53(622):480-7. doi: 10.1136/pgmj.53.622.480.
Any review of the metaphyseal chondrodysplasias is complicated by their variety and mainly unknown pathogenesis. The more familiar types display considerable clinical and radiological diversity: even more so the rarer disorders which still require complete definition, but differences in their mode of inheritance make diagnostic precision mandatory. These dysplasias present in infancy or in childhood, when the patient, usually dwarfed, may be proportionate, so that some forms may be confused with rickets or other lesions. Mental retardation is unusual, but the skin, hair, nails and facies provide valuable diagnostic features. Radiological abnormalities mainly affect the metaphyses of the shortened limb bones, less often the skull, vertebrae, pelvis, ribs and extremities, and sometimes their distribution may indicate the specific type of dysplasia. In a further complex group multiple systems are involved, notably the pancreas, intestine and lympho-reticular, causing malabsorption and haematological or immunological disorders.
任何有关干骺端软骨发育异常的综述都因其种类繁多且发病机制大多不明而变得复杂。较为常见的类型在临床和放射学表现上具有相当大的多样性：更为罕见的疾病更是如此，它们仍需要完整的定义，但其遗传方式的差异使得诊断的准确性至关重要。这些发育异常在婴儿期或儿童期出现，此时患者通常身材矮小，可能比例正常，因此有些类型可能会与佝偻病或其他病变相混淆。智力发育迟缓并不常见，但皮肤、毛发、指甲和面容提供了有价值的诊断特征。放射学异常主要影响缩短的四肢骨骼的干骺端，较少累及颅骨、脊椎、骨盆、肋骨和四肢，有时其分布情况可能提示发育异常的具体类型。在另一组更为复杂的病例中，多个系统受累，尤其是胰腺、肠道和淋巴网状系统，导致吸收不良以及血液学或免疫学紊乱。
