Somatic development in cleidocranial dysplasia.
Somatic development in cleidocranial dysplasia.
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DOI：
10.1002/ajmg.1320350113
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发表时间：
1990
期刊：
影响因子：
--
通讯作者：
B. Jensen
中科院分区：
文献类型：
--
作者：
B. Jensen
作为锁骨颅骨发育不良（CCD）的一般和颅面发育的更全面的调查的一部分，本研究描述了一般的躯体发育，并分析了17例CCD患者（7男，10女，年龄5-46岁）的纵向生长。11人被纵向跟踪。资料包括家族史，人体测量，右手和前臂的X光片。身高和桡骨长度显著降低，在女性中最为明显。纵向生长数据显示，整个儿童期生长迟缓和骨骼成熟度略有延迟。掌指模式剖面分析表明，骨长度的变化很大，可能是由于额外的骨骺在第2和第5掌骨和多个锥形骨骺。本研究结果支持CCD是一种全身性骨骼发育不良的观点。
As part of a more comprehensive investigation of general and craniofacial development in cleidocranial dysplasia (CCD), the present study describes general somatic development and analyzes longitudinal growth of 17 patients (seven males, ten females, aged 5-46 years) with CCD. Eleven were followed longitudinally. Data included family history, anthropometric measurements, and radiographs of the right hand and forearm. Height and radius length were significantly decreased, being most pronounced in females. The longitudinal growth data showed growth retardation and slightly retarded skeletal maturity throughout childhood. Metacarpophalangeal pattern profile analysis demonstrated great variation in bone lengths, presumably resulting from extra epiphyses in the 2nd and 5th metacarpals and from multiple cone-shaped epiphyses. Findings of the present study support the view that CCD is a generalized skeletal dysplasia.