Maia L C, Modesto A, Carakushansky G, de Souza I P
Departamento de Saúde e Sociedade, Universidade Federal Fluminense, Niterói, RJ, Brasil.
Braz Dent J. 2000;11(2):153-60.
Craniometaphyseal dysplasia is a rare genetic bone remodeling disorder characterized by undertubulation of the long bones, especially in the lower extremities, causing deformities of the metaphyses of the long bones, and sclerosis of the skull base or cranial bone hyperostosis. The authors report a case of craniometaphyseal dysplasia in an 8-year-old Brazilian child, emphasizing the importance of precocious diagnosis of this rare genetic disorder.
颅骨骨干发育异常是一种罕见的遗传性骨重塑障碍，其特征是长骨管状化不足，尤其是下肢，导致长骨骨干畸形，以及颅底硬化或颅骨骨质增生。作者报告了一名8岁巴西儿童患颅骨骨干发育异常的病例，强调了对这种罕见遗传病进行早熟诊断的重要性。
