Hematologic manifestations related to bone marrow suppression and subsequent pancytopenia are a major source of morbidity and mortality. Additionally, extramedullary hematopoiesis can result in liver and spleen dysfunction. Cranial nerve dysfunction and neurologic complications are usually associated with<unk><unk> . Expansion of the skull bone leads to macrocephaly. Additionally, linear growth retardation that is not apparent at birth, delayed motor milestones and poor dentition can occur.
Malignant infantile osteopetrosis
Gerodermia osteodysplastica
Diffuse idiopathic skeletal hyperostosis
Multiple epiphyseal dysplasia
Giant-cell tumor of bone
Hyperphosphatasia with mental retardation syndrome
Spondyloepimetaphyseal dysplasia
Osteogenesis imperfecta