INTRAFAMILIAL VARIABILITY IN CLEIDOCRANIAL DYSPLASIA - A 3 GENERATION FAMILY
INTRAFAMILIAL VARIABILITY IN CLEIDOCRANIAL DYSPLASIA - A 3 GENERATION FAMILY
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DOI：
10.1002/ajmg.1320420307
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发表时间：
1992-02-01
期刊：
影响因子：
--
通讯作者：
AZOUZ, EM
中科院分区：
文献类型：
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作者：
CHITAYAT, D;HODGKINSON, KA;AZOUZ, EM
我们提出一个三代家庭，是在一个患有锁骨颅骨发育不良的孩子出生后确诊的。先证者表现为呼吸窘迫(由于胸腔狭窄)以及双侧锁骨发育不良和不连续。母亲、阿姨和祖母都有不同的病情特征。这种家庭内的变异说明了在一个明显的散发性的CD病例出生后对家庭成员进行临床评估的必要性。
We present a 3-generation family, ascertained after the birth of a child with cleidocranial dysplasia (CCD). The propositus presented with respiratory distress (due to a narrow thorax) and hypoplasia and discontinuity of both clavicles. The mother, aunt, and grandmother had varied features of the condition. This intrafamilial variation illustrates the need for clinical assessment of family members following the birth of an apparent sporadic case of CCD.