el Khazen N, Faverly D, Vamos E, Van Regemorter N, Flament-Durand J, Carton B, Cremer-Perlmutter N
Am J Med Genet. 1986 Mar;23(3):811-9. doi: 10.1002/ajmg.1320230308.
Severe osteopetrosis was diagnosed in utero in two successive pregnancies resulting from an intermarriage. Hydrocephaly and skeletal hyperdensity were detected at 18 weeks of gestation, and fractures at 24 weeks. We report on extensive ultrasound, radiological, and pathological findings, including those on brain and bone. The markedly reduced number of osteoclasts observed in these sibs and the very early fetal involvement suggest that this form of osteopetrosis might represent a new entity: autosomal recessive lethal osteopetrosis.
在一对近亲结婚导致的连续两次妊娠中，胎儿在子宫内被诊断出患有严重骨硬化症。妊娠18周时检测到脑积水和骨骼密度增高，24周时发现骨折。我们报告了广泛的超声、放射学和病理学检查结果，包括脑部和骨骼的检查结果。在这些兄弟姐妹中观察到破骨细胞数量明显减少，且胎儿早期就受到影响，这表明这种形式的骨硬化症可能代表一种新的疾病：常染色体隐性致死性骨硬化症。
