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Skeletal Dysplasias: An Overview
2015Constitutional disorders of bone, commonly termed skeletal dysplasias (SDs), are inherited disorders of cartilage and/or bone that affect their growth, morphometry and integrity. Associated skeletal abnormalities are usually but not invariably symmetrical.
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2019
Abstract This chapter reviews the incidence, genetics, and classification of osteogenesis imperfecta (OI) and other bone fragility syndromes that can present with fractures in the newborn. A few rare recessive disorders including Stuve Wiedemann syndrome are discussed briefly. Distinquishing clinical features are highlighted. The utility
Robin D. Clark, Cynthia J. Curry
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Abstract This chapter reviews the incidence, genetics, and classification of osteogenesis imperfecta (OI) and other bone fragility syndromes that can present with fractures in the newborn. A few rare recessive disorders including Stuve Wiedemann syndrome are discussed briefly. Distinquishing clinical features are highlighted. The utility
Robin D. Clark, Cynthia J. Curry
openaire +1 more source
Magnetic Resonance Imaging Clinics of North America
Skeletal dysplasias (SDs) are a diverse group of genetic disorders. Diagnosis can be difficult as many are rare and with varied presentations, but with knowledge of the most common SDs presenting prenatal and with an algorithm that uses both sonographic and MR imaging techniques, directed genetic testing and counseling can be provided for many families.
openaire +2 more sources
Skeletal dysplasias (SDs) are a diverse group of genetic disorders. Diagnosis can be difficult as many are rare and with varied presentations, but with knowledge of the most common SDs presenting prenatal and with an algorithm that uses both sonographic and MR imaging techniques, directed genetic testing and counseling can be provided for many families.
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Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to osteoarthritis
Osteoarthritis and Cartilage, 2020Tim Rolvien, U Kornak, Stefan Mundlos
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Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders
Journal of Bone and Mineral Research, 2023Fulya Taylan +2 more
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