Walpole I R, Nicoll A, Goldblatt J
Department of Paediatrics, University of Western Australia, Perth.
Clin Genet. 1990 Oct;38(4):257-63. doi: 10.1111/j.1399-0004.1990.tb03578.x.
The osteopetroses are a heterogeneous group of disorders characterised by generalised bony sclerosis. The autosomal dominant form usually has a "benign" prognosis, in contrast to the "malignant" course of the autosomal recessive variety. In this paper we describe a kindred in which the phenotypic spectrum varied from an asymptomatic condition in adults to a severely affected infant, presenting with anaemia, hepatosplenomegaly, hydrocephalus and blindness. The findings in this family are reported and discussed to elucidate further the possible genetic heterogeneity in autosomal dominant osteopetrosis.
骨硬化症是一组异质性疾病，其特征为全身性骨硬化。与常染色体隐性型的“恶性”病程相反，常染色体显性型通常预后“良好”。在本文中，我们描述了一个家系，其中表型谱从成人的无症状状态到严重受累的婴儿不等，婴儿表现为贫血、肝脾肿大、脑积水和失明。报道并讨论了该家族的研究结果，以进一步阐明常染色体显性骨硬化症可能存在的遗传异质性。
