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2015 ; 42
(2
): 301-19, viii
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Skeletal dysplasias
#MMPMID26042906
Krakow D
Clin Perinatol
2015[Jun]; 42
(2
): 301-19, viii
PMID26042906
show ga
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.