锁骨颅骨发育不全
Cleidocranial dysplasia.
作者信息
Dixit Ramakant, Dixit Kalpana, Paramez A R
机构信息
Department of Pulmonary Medicine, JLN Medical College, Ajmer and Samarpan Child Clinic, Taragarh Link Road, Ajmer, India.
出版信息
Lung India. 2010 Jul;27(3):176-7. doi: 10.4103/0970-2113.68322.
Abstract
Cleidocranial dysplasia is a rare autosomal dominant condition with generalized dysplasia of bone, characterized by delayed closer of cranial sutures, hypoplastic or aplastic clavicles, short stature, dental abnormalities and a variety of other skeletal abnormalities. We present a seven-year-old female child presenting with classical features of cleidocranial dysplasia.
摘要
锁骨颅骨发育不全是一种罕见的常染色体显性疾病，伴有全身性骨骼发育异常，其特征为颅缝闭合延迟、锁骨发育不全或缺失、身材矮小、牙齿异常以及多种其他骨骼异常。我们报告一名七岁女童，其具有锁骨颅骨发育不全的典型特征。
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