Shankar Vemanna Naveen, Ajila Vidhya, Kumar Gopa
Department of Oral Medicine and Radiology, Institute of Dental Studies and Technologies, Uttar Pradesh, India.
J Oral Sci. 2010 Mar;52(1):167-71. doi: 10.2334/josnusd.52.167.
We report a rare case of osteoglophonic dysplasia affecting father and daughter. Osteoglophonic dysplasia is a very rare skeletal dysplasia with craniosynostosis, multiple radiolucencies of bone and clinical anodontia. It is an autosomal dominant disorder characterised by short stature. The affected children have normal intelligence. Close association with missense mutation of fibroblast growth factor receptor-1 has been reported. Life expectancy depends on the degree of cranial malformation. In previous reports, bone defects usually resolved by adulthood, but multiple tooth impaction may cause aesthetic and masticatory problems. Cytogenetic studies and routine laboratory tests were all within normal limits.
我们报告了一例影响父女的骨肥厚性发育异常罕见病例。骨肥厚性发育异常是一种非常罕见的骨骼发育异常，伴有颅缝早闭、多处骨质透亮区及临床无牙症。它是一种常染色体显性疾病，其特征为身材矮小。患病儿童智力正常。据报道，它与成纤维细胞生长因子受体-1的错义突变密切相关。预期寿命取决于颅骨畸形的程度。在以往的报告中，骨缺损通常在成年期得以解决，但多颗牙齿阻生可能会导致美观和咀嚼问题。细胞遗传学研究和常规实验室检查均在正常范围内。
