El-Sobky Tamer Ahmed, Elsobky Ezzat, Sadek Ismaiel, Elsayed Solaf M, Khattab Mohamed Fawzy
Department of Orthopaedic Surgery, Division of Paediatric Orthopaedics, Faculty of Medicine, Ain-Shams University, 38 Abbasia, Cairo, Egypt.
Division of Medical Genetics, Department of Paediatrics, Faculty of Medicine, Ain-Shams University, 38 Abbasia, Cairo, Egypt.
Bone Rep. 2015 Nov 19;4:11-16. doi: 10.1016/j.bonr.2015.11.002. eCollection 2016 Jun.
Osteopetrosis is a rare hereditary metabolic bone disorder characterized by generalized skeletal sclerosis caused by a defect in bone resorption and remodelling. Infantile autosomal recessive osteopetrosis is one of three subtypes of osteopetrosis and the most severe form. The correct and early diagnosis of infantile osteopetrosis is important for management of complications and for future genetic counselling. Diagnosis is largely based on clinical and radiographic evaluation, confirmed by gene testing where applicable.
Therefore, in this case study the classical clinical and radiological signs of a boy with infantile osteopetrosis will be presented with a comprehensive literature update. The differentiating signs from other causes of hereditary osteosclerosing dysplasias are discussed.
This case study and review of available literature show that there tends to be a highly unique clinical and skeletal radiographic pattern of affection in infantile osteopetrosis.
Although tremendous advances have been made in the elucidation of the genetic defect of osteopetrosis over the past years, the role of accurate clinical and radiological assessment remains an important contributor to the diagnosis of infantile osteopetrosis.
骨质石化症是一种罕见的遗传性代谢性骨病，其特征是由于骨吸收和重塑缺陷导致全身骨骼硬化。婴儿常染色体隐性骨质石化症是骨质石化症的三种亚型之一，也是最严重的一种形式。婴儿骨质石化症的正确早期诊断对于并发症的管理和未来的遗传咨询很重要。诊断主要基于临床和影像学评估，必要时通过基因检测确诊。
因此，在本病例研究中，将呈现一名患有婴儿骨质石化症男孩的经典临床和放射学体征，并进行全面的文献更新。讨论了与遗传性骨硬化发育异常其他病因的鉴别体征。
本病例研究和对现有文献的回顾表明，婴儿骨质石化症往往存在高度独特的临床和骨骼放射学受累模式。
尽管在过去几年中，在阐明骨质石化症的基因缺陷方面取得了巨大进展，但准确的临床和放射学评估对于婴儿骨质石化症的诊断仍然是一个重要的贡献因素。
