Skeletal Dysplasias

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Skeletal Dysplasias

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Dermatoglyphs 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...

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Genetic 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.

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Therapeutic 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...

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Skeletal Dysplasias: Growing Therapy for Growing Bones

Skeletal dysplasias represent a large and diverse group of rare conditions affecting collagen and bone. They can be clinically classified based on radiographic and physical features, and many can be further defined at a molecular level (Bonafe et al., 2015). Early diagnosis is critical to proper medical management including pharmacologic treatment when available. Patients with severe skeletal d...

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ژورنال

عنوان ژورنال: Clinics in Perinatology

سال: 2015

ISSN: 0095-5108

DOI: 10.1016/j.clp.2015.03.003