Skeletal Dysplasias

Abstract

Synoposis 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.

The transcription factor Foxc1 is necessary for Ihh–Gli2-regulated endochondral ossification

“…In humans, most long bones and some craniofacial bones, including the mandibular condyle and sphenoid bone, are formed by endochondral ossification. Thus, the impairment of endochondral ossification causes various skeletal abnormalities, including a short stature and facial dysmorphism 7 .…”

A Tunable, Three-DimensionalIn VitroCulture Model of Growth Plate Cartilage Using Alginate Hydrogel Scaffolds

“…Defects in growth plate function due to genetics (inci dence of chondrodysplasia-1 in 5000 births), metabolic disease, radiation and chemotherapy, and high impact fractures affect skeletal growth, which can lead to deformities, growth arrest, or structural instability of developing long bones. [22][23][24] However, an incomplete understanding of the molecular and cellular pro cesses that produce growth has resulted in few clinical options to treat growth defects and has severely limited advances in tis sue engineering and regenerative strategies to replace damaged or diseased tissue. [22][23][24] Although genetic models have identified many important molecules that regulate cartilage morphogen esis, a deeper mechanistic understanding of growth regulation in vertebrates has been confounded by the lack of tools for pre cise and combinatorial genetic manipulation that is needed to determine mechanism.…”

Referencias argentinas para la evaluación de proporciones corporales desde el nacimiento hasta los 17 años

“…En otras, sin embargo, se necesita de un seguimiento a largo plazo, inclusive hasta la etapa final de crecimiento, momento en el cual los signos clínicos y/o radiológicos son evidentes. [3][4][5][6][7][8][9][10] Muchos niños con DE tienen PC normal para la edad (ent re ± 2 puntuaciones Z) pero clínicamente "alto" para su estatura. El término macrocefalia relativa se utiliza en los casos en los que el PC es normal para la edad y el sexo pero "elevado" para la estatura.…”