نتایج جستجو برای: cleidocranial syndrome
تعداد نتایج: 623409 فیلتر نتایج به سال:
PURPOSE Cleidocranial dysplasia is an autosomal dominant disorder characterized by defective ossification of the intramembraneous ossification (primarily the clavicles, cranium, and pelvis), and it is caused by mutations in the RUNX2 gene that is responsible for osteoblast differentiation. Spine deformities were of progressive nature and considered to be the major orthopedic abnormalities encou...
Genetic and inherited disorders have accompanied humanity since its earliest existence. Many prehistoric and historic sites have revealed archeological remains with pathologies suggestive of inherited disorders. Paleopathology studies the identification of pathological conditions in ancient skeletal remains from many world sites revealed the presence of various hereditary or congenital conditio...
A 3-month-old female infant who presented with patent sagittal suture and loss of weight is described. Physical examination revealed a large sagittal and metopic suture showing delayed closure, a high-arched palate, saddle nose, hypertelorism and nonpalpable edges of the bilateral clavicles. The clavicles also showed undue mobility. Radiological investigations of the cranial skeletal abnormalit...
A case of congenital pseudarthrosis of the clavicle is presented. Congenital pseudarthrosis of the clavicle is a rare entity that has poorly been documented in the pediatric literature. The etiology and pathogenesis still remain obscure. The clinical and radiological appearances are characteristic. Differential diagnosis lies between postpartum fracture, posttraumatic pseudarthrosis, cleidocran...
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