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Autosomal dominant osteopetrosis type II with “malignant” presentation: further support for heterogeneity?
Author(s) -
Walpole Ian R.,
Nicoll Alan,
Goldblatt Jack
Publication year - 1990
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1990.tb03578.x
Subject(s) - hepatosplenomegaly , osteopetrosis , genetic heterogeneity , asymptomatic , medicine , genetics , phenotype , pathology , pediatrics , biology , disease , gene
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.