Clinical spectrum of cleidocranial dysplasia in a family with twins
Clinical spectrum of cleidocranial dysplasia in a family with twins
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DOI：
10.1111/ped.12043
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发表时间：
2013-06-01
影响因子：
1.4
通讯作者：
Jiang, Kewen
中科院分区：
文献类型：
--
作者：
Wang, Jiangping;Huang, Xinwen;Jiang, Kewen
锁骨颅骨发育不良是一种罕见的常染色体显性遗传先天缺陷，主要累及膜内骨化的骨骼。本文报告一例13岁男性单卵双胞胎，其典型特征包括：大的大开窗，异常的锁骨，肩部可向中线倾斜狭窄，身材矮小，面中部发育不良，多颗多生牙齿和骨骼异常。他们的体征导致了对ccd的诊断。遗传分析发现，矮小相关转录因子2 RUNX2基因外显子2在568位发生C-T交换，使精氨酸密码子CGG变为色氨酸密码子TGG(R190W)。对于持续存在广泛开放的前穹窿和缝线，身材矮小，锁骨、头盖骨或牙齿较差的患者，应怀疑CDC。由于可能存在隐性遗传和零星的基因突变，及时识别和遗传倾向咨询是必要和有用的。
Cleidocranial dysplasia (CCD) is a rare congenital defect of autosomal dominant inheritance, primarily affecting bones that undergo intra-membranous ossification. Herein is reported the case of monozygotic male 13-year-old twins with typical features of this syndrome, such as large wide-open fontanels, abnormal clavicles with narrow, sloping shoulders that can be apposed at the midline, short stature, mid-face hypoplasia, multiple supernumerary teeth, and skeletal anomalies. Their physical appearance led to the diagnosis of CCD. Genetic analysis found a C-T exchange in exon 2 at cDNA position 568, which changes the codon CGG for arginine to TGG for tryptophan (R190W) of the runt-related transcription factor 2 RUNX2 gene. CCD should be suspected in patients with persistence of the widely open anterior fontanels and sutures, short stature, and poor clavicles, calvarium, or teeth. Timely recognition and hereditary tendency counseling is required and useful because of the possibility of covert transmissibility and sporadic genetic mutation.