McCulloch P C, Athanasian E A
Hand Surgery Service, The Hospital for Special Surgery, New York, NY 10021, USA.
J Hand Surg Am. 1998 Jan;23(1):162-4. doi: 10.1016/S0363-5023(98)80106-8.
Osteopetrosis is a rare inherited skeletal disorder characterized by a defect in bone resorption. The autosomal-recessive infantile malignant form usually results in death in the first few years of life. The natural history of the disease into adulthood is unknown. Reported here is the case of a 27-year-old man with bilateral resorption of the tufts of the distal phalanges in multiple fingers. It is unclear whether this finding constitutes a previously undescribed aspect of the natural course of the disease or a long-term consequence of therapy.
骨硬化症是一种罕见的遗传性骨骼疾病，其特征是骨吸收存在缺陷。常染色体隐性遗传的婴儿恶性型通常会导致在生命的最初几年内死亡。该疾病发展至成年期的自然病程尚不清楚。本文报告了一例27岁男性患者，其多个手指远端指骨簇出现双侧吸收。目前尚不清楚这一发现是该疾病自然病程中一个此前未被描述的方面，还是治疗的长期后果。
