SKELETAL DYSPLASIA, INTRACEREBRAL CALCIFICATIONS, OPTIC ATROPHY, HEARING IMPAIRMENT, AND MENTAL-RETARDATION - NOSOLOGY OF DYSOSTEOSCLEROSIS

SKELETAL DYSPLASIA, INTRACEREBRAL CALCIFICATIONS, OPTIC ATROPHY, HEARING IMPAIRMENT, AND MENTAL-RETARDATION - NOSOLOGY OF DYSOSTEOSCLEROSIS
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DOI：
10.1002/ajmg.1320430304
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发表时间：
1992-06-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
通讯作者：
AZOUZ, EM
AZOUZ, EM
中科院分区：
其他
文献类型：
--
作者：
CHITAYAT, D;SILVER, K;AZOUZ, EM

文献摘要

被引文献

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一名女孩在出生3个月时出现严重的发育迟缓、失明和听力障碍，被发现有脑内钙化。骨骼片显示颅管状骨模型符合骨质疏松症。对本病的病因学进行了讨论。
A girl who presented at 3 months of life with severe developmental delay, blindness, and hearing impairment was found to have intracerebral calcifications. Skeletal films showed craniotubular bone modeling consistent with dysosteosclerosis. The nosology of this disorder is discussed.