IS GERODERMA OSTEODYSPLASTICA UNDERDIAGNOSED
IS GERODERMA OSTEODYSPLASTICA UNDERDIAGNOSED
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DOI：
10.1136/jmg.25.12.854
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发表时间：
1988-12-01
影响因子：
4
通讯作者：
HUNTER, AGW
中科院分区：
文献类型：
--
作者：
HUNTER, AGW
一个女孩与轻度老年性骨发育不良的报告，以提高这种常染色体隐性遗传疾病，可能是诊断不足的配置文件。这种综合征的重要体征包括下垂、双下巴脸，伴有一定程度的颧骨发育不全和下颌骨肥大，皮肤松弛但无超弹性，最明显的是四肢，以及可能与骨折和椎体塌陷有关的骨质疏松症。
A girl with mild geroderma osteodysplastica is reported in order to raise the profile of this autosomal recessive condition which may be underdiagnosed. The important signs of this syndrome include a droopy, jowly face with a degree of malar hypoplasia and mandibular prognathism, lax, but non-hyperelastic skin, most marked over the extremities, and osteoporosis which may be associated with fractures and vertebral collapse.