de Jong G, Muller L M
Division Human Genetics, Tygerberg Hospital, South Africa.
Am J Med Genet. 1995 Nov 6;59(2):134-8. doi: 10.1002/ajmg.1320590203.
We describe 2 sibs with lethal, prenatal-onset cortical hyperostosis. Antenatal sonographic diagnosis of the first sib was that of short limb dwarfism and thoracic dysplasia (nonspecific), possibly osteogenesis imperfecta. The second sib had a similar appearance on ultrasonography. The thickened, irregularly echodense diaphyses were an aid to diagnosis. Although sporadic cases and autosomal dominant inheritance have been described, an autosomal recessive cause for the lethal prenatal onset cases cannot be excluded.
我们描述了2例患有致死性产前发作性皮质增生症的同胞。对第一个同胞的产前超声诊断为短肢侏儒症和胸廓发育不良（非特异性），可能是成骨不全。第二个同胞在超声检查中表现相似。增厚的、回声密度不规则的骨干有助于诊断。尽管已经描述了散发病例和常染色体显性遗传，但致死性产前发作病例的常染色体隐性病因不能排除。
