骨硬化性干phy端发育不良(OMD)是一种极为罕见的骨硬化症,这具有显著的临床相似性的肌硬化(DSS)。我们的目的是介绍一例罕见的OMD伴下颌肿胀和骨髓炎感染的病例,包括7岁患者的诊断旅程和治疗。已完成OMD病例的文献综述。病例报告调查方法包括基因检测,面部骨骼CT和MRI扫描,矫形图和骨活检。最初怀疑诊断为DSS患有慢性骨髓炎。然而,基因检测后,确诊为OMD.我们的患者接受了外科手术和抗生素治疗。在国际文献中报道了少于10名患有这种疾病的患者。有一个广泛的介绍。OMD,DSS和骨髓炎都在相似的骨骼状况范围内。我们的理解,关于OMD,仍然有限,因此,需要进一步的研究来阐明全面的临床表现。
Osteosclerotic metaphyseal dysplasia (OMD) is an extremely rare form of osteopetrosis, which bears significant clinical similarities to dysosteosclerosis (DSS). We aim to present a rare
case of OMD with mandibular swelling and osteomyelitis infection including diagnosis journey as well as management in 7-year-old patient. Literature review completed for OMD cases.
Case report investigative methods include genetic testing, CT facial bones and MRI scan, orthopantogram and bone biopsies. An initial suspected diagnosis of DSS with chronic osteomyelitis was made. However, following genetic testing, a diagnosis of OMD was confirmed. Our patient underwent a surgical debulking procedure and antibiotic treatment. Less than 10 patients with this condition have been reported within the international literature. There is a wide range of presentation. OMD, DSS and osteomyelitis are all within a similar spectrum of bone conditions. Our understanding, regarding OMD, remains limited and, hence, further research is required to elucidate a thorough clinical picture.