皮质发育不全性骨肥厚

定义 英文原文（暂无中文）

A form of rare dysplastic cortical hyperostosis characterized by narrow chest, short limbs with generalized, symmetrical cortical thickening throughout the skeleton, particularly in the long bones and ribs. Additional features may include sclerotic metacarpals and metatarsals with proximal tapering and mild sclerosis of the pelvis. No cortical thickening reported in skull or mandible. Size of the hands and feet are normal. Microcephaly, abnormal lung segmentation, hepatosplenomegaly, poorly developed cerebral sulci and complete renal duplication has been observed. It is a lethal condition associated to severe fetal hydrops and polyhydramnios.

别名

Kozlowski-Tsuruta 综合征

基本事实

发病年龄

产前

患病率

<1 / 1 000 000

临床表型 14

外部标识与链接