Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis.

Unlabelled: Autosomal dominant OPK and BOS feature widespread foci of osteosclerotic trabeculae without or with skin lesions, respectively. Occasionally, a larger area of dense bone in OPK or BOS resembles MEL, a sporadic sclerosing disorder primarily involving cortical bone. Others, finding deactivating germline LEMD3 mutations in OPK or BOS, concluded such defects explain all three conditions.

Pediatric-onset mixed connective tissue disease.

This article discusses the literature on pediatric-onset mixed connective tissue disease (MCTD) and adds 34 new cases. Although not benign, pediatric-onset MCTD carries less mortality than adult-onset disease.

Respiratory distress with pamidronate treatment in infants with severe osteogenesis imperfecta.

This report aims to describe the adverse respiratory events associated with the first pamidronate cycle in four infants with severe osteogenesis imperfecta (OI) who were less than 2 years of age. Fifty-nine infants with severe OI were commenced on cyclical intravenous pamidronate therapy in an observation trial. Routine observations were measured during each infusion cycle.