MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE-I/III IN SIBS
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE-I/III IN SIBS
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DOI：
10.1136/jmg.28.11.795
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发表时间：
1991-11-01
影响因子：
4
通讯作者：
PASSARGE, E
中科院分区：
文献类型：
--
作者：
MEINECKE, P;PASSARGE, E
描述了一对患有小头骨发育不良性原始侏儒症（MOPD）的兄弟姐妹的临床和放射学结果，一个男孩存活了5年半，他的妹妹在6个月大时死亡。该女孩的神经病理学研究显示明显的小脑畸形伴严重发育不全、额叶旋转不良和胼胝体缺失。我们的观察结果支持这一假设，即I型和III型MOPD可能构成一个相同实体的谱，并且已发表的数据与本报告一致，与常染色体隐性遗传一致。这种情况的发病机制尚不清楚，但其特征表明影响细胞增殖和组织分化的基本缺陷。
The clinical and radiological findings in a pair of sibs with microcephalic osteodysplastic primordial dwarfism (MOPD) are described, a boy who survived for 5 1/2 years and his more severely affected younger sister, who died at the age of 6 months. Neuropathological studies in this girl showed marked micrencephaly with severely hypoplastic, poorly gyrated frontal lobes and absent corpus callosum. Our observation supports the hypothesis that types I and III MOPD probably constitute a spectrum of one and the same entity and published data together with this report are consistent with autosomal recessive inheritance. The pathogenesis of this condition is as yet unknown, but its characteristics indicate a basic defect affecting cell proliferation and tissue differentiation.