Six cases (4 girls and 2 boys aged 3 to 14 months) with osteopetrosis associated with rickets are presented. The parents of all these patients were first cousins. In all patients, physical examination revealed malnutrition and marked growth retardation. Hepatosplenomegaly, microcephaly, exophthalmos, sun-set sign, blue sclera, optic atrophy, nystagmus and anemia were also demonstrated in most cases. Other findings included marked signs of rickets: rachitic rosary and metaphyseal enlargement of the wrists.

Keywords: anemia, hepatosplenomegaly, osteopetrosis with rickets