Caracas Hugo P, Figueiredo Paulo S, Mestrinho Heliana Dantas, Acevedo Ana Carolina, Leite André F
Oral Care Center for Inherited Diseases, University Hospital of Brasilia, Health Science School, University of Brasilia, Brazil.
Clin Dysmorphol. 2012 Jan;21(1):19-21. doi: 10.1097/MCD.0b013e32834c7da7.
Pycnodysostosis (OMIM 265800) is an uncommon hereditary disorder characterized by osteosclerosis of the skeleton, short stature, and bone fragility. The syndrome was first described by Maroteaux and Lamy (1962). Facial dysmorphology, hypoplasia of the mandible,dysplasia of the skull, bones with delayed closure of the cranial sutures, clavicular dysplasia, acroosteolysis or partial aplasia of the terminal phalanges, and abnormal tooth eruption have also been reported (Gelb et al., 1995). An autosomal recessive mode of inheritance has been also suggested and the locus of the disease was initially mapped to human chromosome 1q21 by genetic linkage (Bernard et al., 1980). Since then, several mutations on unrelated patients and consanguineous families have been identified in the cathepsin K gene (CTSK), affecting osteoclast function.Only two previous reports have demonstrated the presence of craniosynostosis in patients with pycnodysostosis(Fleming et al., 2007; Osimani et al., 2010). The purpose of this case report is to describe the craniofacial and dental features of a 12-year-old boy with pycnodysostosisand an uncommon association with craniosynosotosis.
致密性骨发育不全症（OMIM 265800）是一种罕见的遗传性疾病，其特征为骨骼骨质硬化、身材矮小和骨质脆弱。该综合征最早由马罗托和拉米于1962年描述。面部畸形、下颌骨发育不全、颅骨发育异常、颅缝闭合延迟的骨骼、锁骨发育异常、肢端骨质溶解或末节指骨部分发育不全以及牙齿萌出异常也有相关报道（盖尔等人，1995年）。也有人提出其遗传方式为常染色体隐性遗传，并且最初通过基因连锁分析将该疾病的基因座定位到人类染色体1q21（伯纳德等人，1980年）。从那时起，在组织蛋白酶K基因（CTSK）中已鉴定出一些无关患者和近亲家庭中的突变，这些突变影响破骨细胞功能。此前仅有两篇报道证实致密性骨发育不全症患者存在颅缝早闭（弗莱明等人，2007年；奥西马尼等人，2010年）。本病例报告的目的是描述一名患有致密性骨发育不全症且伴有罕见的颅缝早闭的12岁男孩的颅面部和牙齿特征。
