Majewski osteodysplastic primordial dwarfism type II (MOPD II): Natural history and clinical findings
Majewski osteodysplastic primordial dwarfism type II (MOPD II): Natural history and clinical findings
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DOI：
10.1002/ajmg.a.30203
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发表时间：
2004-09-15
影响因子：
2
通讯作者：
Tanaka, KI
中科院分区：
文献类型：
--
作者：
Hall, JG;Flora, C;Tanaka, KI
基于58例受影响的个体（27例来自文献，31例以前未报告的病例），描述了Mauriski骨发育不良性原始侏儒II型（MOPD II）的临床特征。MOPD II的显著特征是：严重的宫内发育迟缓（IUGR），严重的出生后发育迟缓;出生时头部大小相对成比例，发展为真正的和不成比例的小头畸形;继发于肢体远段和中段缩短的身材矮小的进行性不成比例;肢体干骺端变化的进行性骨发育不良;骨骺发育迟缓;进行性关节松动，膝关节、桡骨头和髋关节偶尔脱位或半脱位;不寻常的面部特征，包括突出的鼻子，婴儿期和幼儿期出现突出的眼睛，比例相称的耳朵，轻度发育不良，通常缺少小叶;高尖声;异常的，小的，通常发育不良或缺失的齿列;愉快的，外向的，社交的个性;和常染色体隐性遗传。远视、脊柱侧凸、异常色素沉着和躯干肥胖通常会随着时间的推移而发展。有些人似乎对感染的易感性增加。许多受影响的个体已经发展出CNS动脉扩张，被不同地描述为动脉瘤和莫亚莫亚病。这些血管变化可能危及生命，即使在早年，因为破裂，中枢神经系统出血和中风。即使在同一家庭中，受影响的个体之间也存在差异。(C)2004 Wiley-Liss，Inc.
A description of the clinical features of Majewski osteodysplastic primordial dwarfism type II (MOPD II) is presented based on 58 affected individuals (27 from the literature and 31 previously unreported cases). The remarkable features of MOPD II are: severe intrauterine growth retardation (IUGR), severe postnatal growth retardation; relatively proportionate head size at birth which progresses to true and disproportionate microcephaly; progressive disproportion of the short stature secondary to shortening of the distal and middle segments of the limbs; a progressive bony dysplasia with metaphyseal changes in the limbs; epiphyseal delay; progressive loose-jointedness with occasional dislocation or subluxation of the knees, radial heads, and hips; unusual facial features including a prominent nose, eyes which appear prominent in infancy and early childhood, ears which are proportionate, mildly dysplastic and usually missing the lobule; a high squeaky voice; abnormally, small, and often dysplastic or missing dentition; a pleasant, outgoing, sociable personality; and autosomal recessive inheritance. Far-sightedness, scoliosis, unusual pigmentation, and truncal obesity often develop with time. Some individuals seem to have increased susceptibility to infections. A number of affected individuals have developed dilation of the CNS arteries variously described as aneurysms and Moya Moya disease. These vascular changes can be life threatening, even in early years because of rupture, CNS hemorrhage, and strokes. There is variability between affected individuals even within the same family. (C) 2004 Wiley-Liss, Inc.