Mirovsky Y, Halperin N, Copeliovitch L, Tieder M
Clin Orthop Relat Res. 1984 May(185):72-6.
A girl seven years ten months of age with multiple exostoses-mental retardation (MEMR) syndrome was treated by bilateral supracondylar osteotomies at the age of six years 11 months for correction of severe genu valgum. The case is the 14th to be described in the English-language literature and seems to be the first on record in which the deformity was corrected by surgery. Typical findings in this syndrome include unusual facial features with bulbous nose, sparse scalp hair, large ears, microcephaly, mental retardation, cone-shaped epiphyses of the digital phalanges, and multiple exostoses. Each of these features may also appear in other constitutional and genetic disorders, and only their combination points to a definite diagnosis of MEMR syndrome. Other features, e.g., joint laxity and loose skin, are transient and may cause some confusion in diagnosis, sometimes leading to a mistaken diagnosis of cerebral palsy or Ehlers-Danlos syndrome. Thus, care must be taken in consecutive examinations to seek and identify each of the above mentioned typical features of the disorder.
一名7岁10个月大患有多发性外生骨疣-智力发育迟缓（MEMR）综合征的女孩，在6岁11个月时接受了双侧髁上截骨术，以矫正严重的膝外翻。该病例是英文文献中描述的第14例，似乎是有记录以来第一例通过手术矫正畸形的病例。该综合征的典型表现包括不寻常的面部特征，如蒜头鼻、头皮毛发稀疏、耳朵大、小头畸形、智力发育迟缓、手指骨的锥形骨骺以及多发性外生骨疣。这些特征中的每一个也可能出现在其他体质和遗传疾病中，只有它们的组合才能明确诊断为MEMR综合征。其他特征，如关节松弛和皮肤松弛，是暂时的，可能会在诊断上造成一些混淆，有时会导致误诊为脑瘫或埃勒斯-当洛综合征。因此，在连续检查中必须注意寻找和识别该疾病上述提到的每个典型特征。
