SPONDYLOMETEPIPHYSEAL DYSPLASIA, STRUDWICK TYPE
SPONDYLOMETEPIPHYSEAL DYSPLASIA, STRUDWICK TYPE
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DOI：
10.1002/ajmg.1320130304
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发表时间：
1982-01-01
期刊：
影响因子：
--
通讯作者：
RIMOIN, DL
中科院分区：
文献类型：
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作者：
ANDERSON, CE;SILLENCE, DO;RIMOIN, DL
8例患者的临床和影像学观察，另外6例患者的X线片和这14例患者中2例的软骨-骨组织的形态学观察，构成了描述一个不同于涉及脊柱和管状骨、脊椎骨峡部和脊椎骨峡部发育不良的异质性骨骼发育不良组的实体的基础。出生时出现不对称短肢和延迟骨骺成熟，婴儿期X线检查无法与先天性脊椎骨骺发育不良（SED）鉴别。干骺端的变化，允许识别的实体在这里描述的发展在幼儿期，并在X线片上被视为斑点，即，骨质疏松和骨质减少交替出现的斑点状外观。严重的脊柱侧凸和脊髓压迫可能是与成年后脊柱改变相关的重要临床问题。其中一个家系有2个患病同胞，双亲正常，提示常染色体隐性遗传，并与常染色体显性遗传的先天性SED相鉴别。
The clinical and radiographic observations in 8 patients, radiographs on an additional 6 patients and morphologic observations on chondro-osseous tissue from 2 of these 14 patients form the basis for delineating an entity distinct from the heterogeneous group of skeletal dysplasia involving spine and tubular bones, the spondylometephyseal, and spondylometaphyseal dysplasias. Disproportionately short limbs and delayed epiphyseal maturation are present at birth, and the entity is radiographically indistinguishable from spondyloepiphyseal dysplasia (SED) congenita during infancy. The metaphyseal change that allows identification of the entity described here develops during early childhood, and radiographically is seen as dappling, i.e., the mottled appearance of alternating zones of osteosclerosis and osteopenia. Severe scoliosis and cord compression may be important clinical problems related to the spine changes in adulthood. One family was identified with 2 affected sibs and normal parents, suggesting autosomal recessive inheritance and distinguishing the entity from SED congenita that has autosomal dominant inheritance.