Article
Managing challenging pain and irritability in OSTM1 mutation-related infantile malignant osteopetrosis.
BMJ case reports - 19 May 2021
Alotaibi Qutaibah, Dighe Manjiri
Abstract excerpt
Osteopetrosis describes a heterogeneous group of diseases characterised by increased bone density due to impaired osteoclast. The malignant infantile autosomal recessive (MIOP) form caused by mutations in OSTM1 is the most severe form of osteopetrosis. Children with this phenotype exhibit multisystemic complications, of which the neuropathic manifestations are the most severe. Infants with MIOP may present with...
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