Le Merrer M, Maroteaux P
Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U 393, Hôpital des Enfants Maldades, 149 rue de Sèvres, 75743 Paris cedex 15, France.
Pediatr Radiol. 1998 Oct;28(10):771-5. doi: 10.1007/s002470050463.
We report on six unrelated children, three boys and three girls, with a metaphyseal dysplasia of early onset and spontaneous regressing evolution. During the first months of life the children present with enlargement of costochondral junctions and knobby wrists. On radiographs the metaphyseal changes of the knees are specific with fine irregularities. The femoral necks are blurred but not hypoplastic. The stature is not affected and there are no metabolic abnormalities. The radiographic findings regress during growth and the abnormalities disappear after the age of ten years. These metaphyseal changes and their mode of inheritance are different from previous cases described as anadysplasia. We propose therefore to delineate this syndrome as a new type of regressive metaphyseal dysplasia and to name it anadysplasia type II.
我们报告了6名无亲缘关系的儿童，3名男孩和3名女孩，他们患有早发性干骺端发育异常且病情呈自发消退演变。在生命的最初几个月，这些儿童表现为肋软骨连接处增大和手腕呈结节状。X线片显示，膝关节的干骺端改变具有特异性，表现为细微不规则。股骨颈模糊但未发育不全。身高未受影响，也没有代谢异常。X线表现随生长而消退，异常在10岁后消失。这些干骺端改变及其遗传方式与先前描述为发育异常的病例不同。因此，我们建议将这种综合征界定为一种新型的退行性干骺端发育异常，并将其命名为II型发育异常。
