Raine Syndrome, a Rare Lethal Osteosclerotic Bone Dysplasia: Prenatal Diagnosis With 3‐Dimensional Ultrasound and a Postnatal Clinical Exome Evaluation
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Ultrasound in Medicine"
DOI: 10.1002/jum.15426
Abstract: Raine syndrome (RS) is a rare autosomal recessive osteosclerotic bone dysplasia (Online Mendelian Inheritance in Man 259775) with an estimated prevalence of less than 1 per 1,000,000 and was first reported by Raine et al… read more here.
Keywords: syndrome rare; raine syndrome; bone; dimensional ultrasound ... See more keywords
Melorheostosis: a Rare Sclerosing Bone Dysplasia
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DOI: 10.1007/s11914-017-0375-y
Abstract: Purpose of ReviewMelorheostosis is a rare sclerosing bone dysplasia that affects both cortical bone and adjacent soft tissue structures in a sclerotomal distribution. In this review, we describe the natural history, radiological features, proposed pathogenesis,… read more here.
Keywords: rare sclerosing; sclerosing bone; melorheostosis; bone ... See more keywords
Sphenoid Bone Dysplasia: A Rare Cause of Compressive Optic Neuropathy Mimicking Glaucoma
Sign Up to like & getrecommendations! Published in 2023 at "Turkish Journal of Ophthalmology"
DOI: 10.4274/tjo.galenos.2022.37605
Abstract: Fibrous dysplasia is a benign, rare bone disease in which bone is replaced by fibro-osseous tissue to varying degrees. It can present differently depending on the amount of compression caused by the fibro-osseous tissue. Patients… read more here.
Keywords: sphenoid bone; glaucoma; dysplasia rare; bone ... See more keywords