Osteopetrosis Mild Autosomal Recessive Form OMIM

Description: 259710 OSTEOPETROSIS, MILD AUTOSOMAL RECESSIVE FORM Burns et al. (1978) described a form of osteopetrosis resembling the autosomal dominant form (166600) in its benignity but displaying autosomal recessive inheritance like the malignant infantile form (259700). The clinical features were variable but included mandibular prognathism, genu valgum, anemia, hepatosplenomegaly, and tendency to fracture and mandibular osteomyelitis. Dental anomalies included retention of deciduous teeth, malformation of crowns, and strong tendency to caries. Kahler et al. (1984) gave a definitive description of this family. McClure (1978) reported a relatively mild form of recessive osteopetrosis in 3 sibs. One died at age 17; the 2 others were surviving at ages 20 and 16. Features included optic atrophy with blindness from an early age, gross bone deformities, numerous fractures, marked hepatosplenomegaly, and severe anemia and thrombocytopenia. The oldest, a male, attended university and majored in music. Splenectomy was performed in him at age 14 with partial relief of pancytopenia and the mechanical burden. The hemoglobin ran about 4 gm% for many years in all the children but, in the teens in the nonsplenectomized children, rose spontaneously, reaching about 9 gm% in the male who died.