锁骨颅骨发育不全
Cleidocranial dysplasia.
作者信息
Kutilek Stepan, Machytka Roman, Munzar Petr
机构信息
Department of Pediatrics, Klatovy Hospital, Klatovy, Czech Republic.
Department of Pediatrics, Pardubice Hospital, Pardubice, Czech Republic.
出版信息
Sudan J Paediatr. 2019;19(2):165-168. doi: 10.24911/SJP.106-1549652213.
Abstract
We present a 4-year-old girl with persistent anterior fontanelle and narrow sloping shoulders. The X-ray imaging revealed widely open anterior fontanelle, supernumerary teeth, and absence of clavicles. Therefore, the diagnosis was cleidocranial dysplasia, which is a rare autosomal dominant skeletal disease, caused by the mutation in the gene on 6p21 encoding transcription factor (runt-related transcription factor 2-). The girl remains under close surveilance, her anterior fontanelle closed spontaneously at the age of 9 years.
摘要
我们报告一名4岁女童，有前囟持续未闭及肩部狭窄倾斜。X线成像显示前囟广泛开放、多生牙以及锁骨缺如。因此，诊断为锁骨颅骨发育不全，这是一种罕见的常染色体显性骨骼疾病，由6p21上编码转录因子（ runt相关转录因子2）的基因突变引起。该女童仍在密切监测中，其前囟在9岁时自行闭合。
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