骨转移症是一种溶酶体常染色体隐性遗传性骨骼发育不良,以骨硬化为特征,身材矮小,肢端骨溶解,面部特征和骨折风险增加。该疾病的临床异质性及其稀有性使其难以为患者提供准确的预后,以及适当的护理和后续行动。来自OSCAR网络的法国医生被要求填写问卷,以收集来自17个无关家庭的27名患者的分子和临床数据。所有患者均显示身材矮小(平均值=-3.5SD),女性更严重(P=.006)。平均骨折率为中等(每年0.21),平均有四个骨折。大约75%的人接受了至少一次手术,平均每位患者2.1次干预。由于睡眠呼吸暂停,约50%需要无创辅助通气(67%)。大约29%的人表现出精神运动困难,33%的人需要学校助理或适应学校教育。没有患者进行任何心理评估或随访。可获得14个家族的分子数据。在40%的病例中,生长激素给药对线性生长有效。我们提出了几个管理轴,例如在诊断时进行Chiari畸形筛查的系统脑MRI和定期的心理随访。
Pycnodysostosis is a lysosomal autosomal recessive skeletal dysplasia characterized by osteosclerosis, short stature, acro-osteolysis, facial features and an increased risk of fractures. The clinical heterogeneity of the disease and its rarity make it difficult to provide patients an accurate prognosis, as well as appropriate care and follow-up. French physicians from the OSCAR network have been asked to fill out questionnaires collecting molecular and clinical data for 27 patients issued from 17 unrelated families. All patients showed short stature (mean = -3.5 SD) which was more severe in females (P = .006). The mean fracture rate was moderate (0.21 per year), with four fractures in total average. About 75% underwent at least one surgery, with an average number of 2.1 interventions per patient. About 50% required non-invasive assisted ventilation due to sleep apnea (67%). About 29% showed psychomotor difficulties and 33% needed a school assistant or adapted schooling. No patient had any psychological evaluation or follow-up. Molecular data were available for 14 families. Growth hormone administration was efficient on linear growth in 40% of cases. We propose several axis of management, such as systematic cerebral MRI for Chiari malformation screening at diagnosis and regular psychological follow-up.