PP.47 Evaluating Outcomes of Skeletal Dysplasias (SDs)
نویسندگان
چکیده
منابع مشابه
Skeletal Dysplasias
This is a good radiological text covering occult traumatic lesions of the cervical, lower thoracic, and lumbar spine, especially for residents in radiology, neurosurgery, neurology, and orthopedics. The book reviews a topic which has not been widely covered in the literature. The major emphasis of this expanded second edition is the cervical spine, comprising seven of its ten chapters. A new ch...
متن کاملDermatoglyphs in skeletal dysplasias.
Finger and palm print patterns (dermatoglyphs) are formed in very early pregnancy, at about the same time the limbs are developing, and their formation probably depends upon the surface contours of the palms and soles during morphogenesis. Dermatoglyphs are useful in skeletal dysplasias for the detection and study of syndactyly and symphalangism, for dating the onset and the dysplasias, for dem...
متن کاملGenetic heterogeneity in skeletal dysplasias.
Certain skeletal dysplasias represent excellent examples of genetic heterogeneity. Clinical recognition of their individual characteristics is a fundamental prerequisite for an understanding of their pathogenetic mechanisms and for the identification of their basic molecular defects.
متن کاملTherapeutic potential of CNP for skeletal dysplasias
Background We had revealed that C-type natriuretic peptide (CNP) is a potent stimulator of endochondral bone growth by using transgenic and knockout mice: transgenic mice with targeted overexpression of CNP in cartilage develop prominent skeletal overgrowth [1], whereas mice depleted with CNP exhibit impaired endochondral bone growth [2]. We planned to translate this effect of CNP into the ther...
متن کاملA new concept of skeletal dysplasias.
The skeletal dysplasias form a large group of hereditary disorders characterized by abnormal growth and malformations of bone and cartilage. The clinical severity ranges from mildly affected short stature to lethal forms. Spranger classified approximately 200 different skeletal dysplasias in 1992, based on the clinical and radiographic features and the mode of genetic transmission. Etiopathogen...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood - Fetal and Neonatal Edition
سال: 2013
ISSN: 1359-2998,1468-2052
DOI: 10.1136/archdischild-2013-303966.327