锁骨颅骨发育不全的罕见表现。
A rare presentation of cleidocranial dysplasia.
作者信息
Broeks Ilse, Veenstra-Knol Irma E, Kamps Arvid W A
机构信息
Department of Paediatrics, Medical Center Leeuwarden, Leeuwarden, The Netherlands.
出版信息
BMJ Case Rep. 2012 Aug 8;2012:bcr0320126101. doi: 10.1136/bcr-03-2012-6101.
Abstract
Cleidocranial dysplasia (CCD) is a rare skeletal dysplasia characterised by a defect in ossification. Frequently reported clinical findings are delayed closure of the fontanelles and cranial sutures, hypoplastic clavicles, dental abnormalities and short stature. Our patient suffered from complete absence of ossification of both parietal bones. This is a rare and severe defect that has been reported in only a few patients with CCD.
摘要
锁骨颅骨发育不全（CCD）是一种罕见的骨骼发育不良，其特征是骨化缺陷。常见的临床表现为囟门和颅缝闭合延迟、锁骨发育不全、牙齿异常和身材矮小。我们的患者双侧顶骨完全没有骨化。这是一种罕见且严重的缺陷，仅在少数CCD患者中报道过。
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