Cesk Patol. 2023 Summer;59(2):68-79.
We present a comprehensive review dealing with rare genetic skeletal disorders. More than 400 entities are included in the latest classification. The most severe or lethal phenotypes are identifiable in the prenatal period and the pregnancy can be terminated. Perinatal autopsy and posmortem X-rays are crucial in providing a definitive diagnosis. The number of cases confirmed by genetic testing is increasing. We report our own experience with genetic skeletal disorders based on 41 illustrative fetal and neonatal cases which we encountered over a 10-year period. Thanatophoric dysplasia and osteogenesis imperfecta represent approximately half of the cases coming to autopsy. Achondrogenesis type 2 and hypochondrogenesis, short-rib dysplasia, chondrodysplasia punctata, campomelic dysplasia and achondroplasia are less common. Skeletal dysplasias with autosomal recessive inheritance are the least frequent, e.g. perinatally lethal hypophophatasia, achondrogenesis type 1A, diastrophic dysplasia/atelosteogenesis type 2 or mucolipidosis type 2 (I cell disease).
我们呈现了一份全面的综述，涉及罕见的遗传性骨骼疾病。最新的分类中包括了超过 400 种疾病。在产前阶段可以识别出最严重或致命的表型，并且可以终止妊娠。围产期尸检和死后 X 光检查对于提供明确的诊断至关重要。通过基因检测确认的病例数量正在增加。我们根据在 10 年期间遇到的 41 例具有代表性的胎儿和新生儿病例报告了我们自己的遗传性骨骼疾病经验。致死性发育不良和成骨不全症约占尸检病例的一半。软骨生成发育不全 2 型和软骨生成不全症、短肋发育不良、点状软骨发育不良、卡梅隆畸形和软骨发育不全症则较为少见。常染色体隐性遗传的骨骼发育不良症是最不常见的，例如围产期致死性低磷酸酯酶症、软骨生成发育不全症 1A 型、迪斯蒂克氏发育不良/成骨发育不全症 2 型或黏脂贮积症 2 型（I 细胞疾病）。
