Autosomal dominant osteopetrosis type II with "malignant" presentation: further support for heterogeneity?
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.
Walpole
I R
IR
Department of Paediatrics, University of Western Australia, Perth.
Nicoll
A
A
Goldblatt
J
J
D000328:Adult; D001766:Blindness / Q000235:genetics; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005260:Female; D005598:Fractures, Spontaneous / Q000235:genetics; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D010022:Osteopetrosis / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012162:Retinal Degeneration / Q000235:genetics