Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. [malacards.org]

On examination, the infant was found with hypotonia, abnormal eye movements, depressed nasal bridge, and hepatomegaly without splenomegaly. An abdominal ultrasound measured a normal spleen and an enlarged liver with 345 cc estimated volume. [scielo.org.mx]

Affiliated tissues include bone and bone marrow, and related phenotypes are macrocephaly and failure to thrive Disease Ontology : 12 An osteopetrosis characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the [malacards.org]

FAILURE TO THRIVE Failure to thrive is seen in many osteopetrotic children and is a result of the chronic anaemia, feeding problems caused by bulbar nerve involvement, nasal congestion, and recurrent infections.4 9 19 20 Many children require nasal gastric [adc.bmj.com]

The vitamin D analogues and calcium supplements used to treat the former may make the latter more likely post-BMT and the clinician should be careful not to “over treat”.9Bisphosphonates, phosphate infusions, and calcitonin may be useful in the severe [adc.bmj.com]

Only a small number of these are associated with anaemia and visual impairment.10Dysosteosclerosis is a very rare condition which can present with a very similar phenotype to osteopetrosis. [adc.bmj.com]

The final result is the dissolution of bone and matrices to allow for remodeling in processes of growth, mobilization of calcium and phosphorus reservoirs, and tooth eruption, among others7. [scielo.org.mx]

Surgical vault release however may result in significant intracranial perioperative bleeding, probably secondary to underlying cerebral venous obstruction at the level of the exit foramina.9 Children frequently have dental problems; failure of tooth eruption [adc.bmj.com]