Skeletal Dysplasias

• Autores: Deborah Krakow
• Localización: Clinics in Perinatology, ISSN 0095-5108, Vol. 42, Nº. 2, 2015, págs. 301-319
• Idioma: inglés
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• Resumen

  • The skeletal dysplasias are a group of more than 450 heritable disorders of bone. They frequently present in the newborn period with disproportion, radiographic abnormalities, and occasionally other organ system abnormalities. For improved clinical care, it is important to determine a precise diagnosis to aid in management, familial recurrence, and identify those disorders highly associated with mortality. Long-term management of these disorders is predicated on an understanding of the associated skeletal system abnormalities, and these children are best served by a team approach to health care surveillance.