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16  Articles
1 of 3 pages  |  10  records  |  more records»
Szczepkowska Aleksandra, Osica Piotr, Janas-Naze Anna. Aspekt chirurgiczny opieki nad pacjentem z dysplazja obojczykowo-czaszkowa – opis przypadku = Surgical aspect of patient care with cleidocranial dysplasia - case report. Journal of Education, Health a... see more

AbstractScapuloiliac dysostosis, also known as pelvis-shoulder dysplasia and Kosenow syndrome, is a rare skeletal dysplasia described first by Kosenow et al. in 1970. The main components of the syndrome are varying degrees of bilateral iliac and scapular ... see more

Objective. To describe a rare case of cleidocranial dysplasia, an autosomal dominant inherited disease involving the skeleton and teeth, with delayed diagnosis. Case report. We report a 24-year-old man with cleidocranial dysplasia admitted with hearing lo... see more

Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disease. It is characterized by partial or completeabsence of clavicles, late closure of fontanels, presence of open skull sutures and multiple wormian bones and variouscraniofacial and d... see more

AbstractWe present a case of traumatic rupture of the spleen in a man with cleidocranial dysplasia. The computed tomography imaging showed multiple low-grade lacerations of the spleen which initially led to conservative patient management. However, with c... see more

AbstractMucopolysaccharidosis (MPS) comprises a group of conditions associated with an abnormality in glycoprotein or mucopolysaccharides metabolism. Types of MPS identified are MPS I-H (Hurler's syndrome, gargoylism), MPS II (Hunter's syndrome), MPS III ... see more

AbstractTwo cases of mandibulofacial dystostosis are presented in order to describe the features associated with the condition. Computed tomography (CT) is frequently performed on these patients to aid in surgical planning. 3D volume rendering provides th... see more

Binder’s syndrome or maxillonasal dysostosis is a rare congenital condition that primarily affects the mid-face andsometimes the vertebrae. It was named after von Binder who described three cases of hypoplastic maxilla-nasalcomplex in 1962. It can either ... see more

1 of 3 pages  |  10  records  |  more records»