نتایج جستجو برای: cleidocranial dysplasia
تعداد نتایج: 28648 فیلتر نتایج به سال:
A male neonate was antenatally diagnosed with cleidocranial dysplasia on the basis of prenatal ultrasound findings and molecular testing of the RUNX2 gene. The patient presented with urosepsis at 24 days of life and subsequently developed apneas after endoscopic examination of the vocal cords. Computed tomography and MRI studies of the head revealed crowding of the posterior fossa with tonsilla...
We report two cases of cleidocranial dysplasia, which was managed without significant craniofacial osteotomy. A mother and daughter, both of normal intelligence, presented with central forehead depression, mid-face hypoplasia, and blepharoptosis. The fact that they have an identically deformed face implied a genetic basis. In both patients, radiologic evaluation revealed the underdeveloped maxi...
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...
The first three disorders discussed are abnormalities of bone: too little bone in cleidocranial dysplasia caused by mutations in RUNX2; too much bone in fibrodysplasia ossificans progressiva with overexpression of BMP4; and abnormal bone in McCune-Albright syndrome and fibrous dysplasia caused by mutations in GNAS1. Disorders of the sonic hedgehog signaling network are discussed next, including...
231 Anaesthetic Management of a Primigravida Patient with Cleidocranial Dysplasia Undergoing Caesarean Section Abstract Type: Case Report/Case Series Yat W Li, B.Sc. Biochemistry, B.M. Medicine, FRCA; Awini Gunasekera, B.Sc., M.B., B.S., M.R.C.P., FRCA; Garud S. Chandan, M.B., B.S., FRCA Mid Staffordshire NHS Foundation TrustType: Case Report/Case Series Yat W Li, B.Sc. Biochemistry, B.M. Medic...
Physical cues, such as extracellular matrix stiffness, direct cell differentiation and support tissue-specific function. Perturbation of these cues underlies diverse pathologies, including osteoarthritis, cardiovascular disease and cancer. However, the molecular mechanisms that establish tissue-specific material properties and link them to healthy tissue function are unknown. We show that Runx2...
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