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J Postgrad Med ; 1996 Oct-Dec; 42(4): 123-5
Article in English | IMSEAR | ID: sea-116582

ABSTRACT

We report three sibs with mild autosomal recessive variety of osteopetrosis. The prominent clinical features were short stature, malocclusion of teeth, hepatosplenomegaly and a typical facial appearance. The only atypical features were microcephaly, a normal upper segment to lower segment ratio and a normal arm span.


Subject(s)
Child , Child, Preschool , Female , Genes, Recessive/genetics , Genetic Diseases, Inborn/genetics , Humans , Infant , Osteopetrosis/genetics , Pedigree
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