Czerwieńska Beata, Wystrychowski Antoni, Wiecek Andrzej
Katedra i Klinika Nefrologii, Endokrynologii i Chorób Przemiany Materii Sl. AM w Katowicach.
Pol Arch Med Wewn. 2005 May;113(5):466-70.
Osteopoikilosis is a rare, hereditary disorder of bone tissue. Most frequently this abnormality is asymptomatic and diagnosed incidentally on the basis of X-ray images, taken on other occasions. The characteristic radiographic appearance consists of oval or round, well-defined osteosclerotic foci in various sites of skeleton (pelvis, hands and feet, epiphyses of long bones). In the present paper a case of inborn osteopoikilosis in 23-year-old female patient is described. Typical bone abnormalities founding in her mother implicate an inherited character of this disorder.
骨斑点症是一种罕见的遗传性骨组织疾病。这种异常情况最常见的是无症状的,通常是在因其他原因进行X线检查时偶然发现的。其典型的放射学表现为在骨骼的不同部位(骨盆、手和脚、长骨骨骺)出现椭圆形或圆形、边界清晰的骨硬化病灶。本文描述了一名23岁女性先天性骨斑点症患者的病例。在她母亲身上发现的典型骨骼异常表明了这种疾病的遗传特征。