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Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia
Bone development is a tightly regulated process. Several integrated signaling pathways including HH, PTHrP, WNT, NOTCH, TGF-β, BMP, FGF and the transcription factors SOX9, RUNX2 and OSX are essential for proper skeletal development.
Valerie Cormier-Daire
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Seminars in Fetal and Neonatal Medicine, 2005
This review is intended to help the neonatologist who is asked to see a baby or speak to parents who are expecting a baby with signs of a generalised disturbance of bone growth and/or modelling. In this review, we will: define a skeletal dysplasia; discuss the presenting features of a skeletal dysplasia in pregnancy and the newborn period; suggest a ...
Jane A, Hurst +2 more
openaire +2 more sources
This review is intended to help the neonatologist who is asked to see a baby or speak to parents who are expecting a baby with signs of a generalised disturbance of bone growth and/or modelling. In this review, we will: define a skeletal dysplasia; discuss the presenting features of a skeletal dysplasia in pregnancy and the newborn period; suggest a ...
Jane A, Hurst +2 more
openaire +2 more sources
Best Practice & Research Clinical Endocrinology & Metabolism, 2002
The skeletal dysplasias are a large, heterogeneous group of genetic conditions characterized by abnormal development, growth and maintenance of the elements (bones) that comprise the human skeleton. Many result in disproportionate short stature. The classification of these disorders has evolved over the past 30 years from purely clinical-pathological ...
Ravi, Savarirayan, David L, Rimoin
openaire +2 more sources
The skeletal dysplasias are a large, heterogeneous group of genetic conditions characterized by abnormal development, growth and maintenance of the elements (bones) that comprise the human skeleton. Many result in disproportionate short stature. The classification of these disorders has evolved over the past 30 years from purely clinical-pathological ...
Ravi, Savarirayan, David L, Rimoin
openaire +2 more sources
Pediatric Radiology, 2012
Skeletal dysplasias are a large diverse group of disorders characterized by abnormal bone and cartilage growth. Approximately one-quarter of them are considered lethal in the perinatal period. This paper will review the components of the skeletal survey, the primary imaging tool for diagnosing dysplasias postnatally, emphasizing the use of an organized
Shawn E, Parnell, Grace S, Phillips
openaire +2 more sources
Skeletal dysplasias are a large diverse group of disorders characterized by abnormal bone and cartilage growth. Approximately one-quarter of them are considered lethal in the perinatal period. This paper will review the components of the skeletal survey, the primary imaging tool for diagnosing dysplasias postnatally, emphasizing the use of an organized
Shawn E, Parnell, Grace S, Phillips
openaire +2 more sources
Clinical Orthopaedics and Related Research, 1976
Mesomelic shortening of the extremities lends itself as a useful clinical and/or radiologic sign to characterize a group of hereditary bone dysplasias. Table 1 and Figure 4 are presented to facilitate the comparison between the many different types of mesomelic dwarfism.
I, Kaitila, J T, Leisti, D L, Rimoin
openaire +2 more sources
Mesomelic shortening of the extremities lends itself as a useful clinical and/or radiologic sign to characterize a group of hereditary bone dysplasias. Table 1 and Figure 4 are presented to facilitate the comparison between the many different types of mesomelic dwarfism.
I, Kaitila, J T, Leisti, D L, Rimoin
openaire +2 more sources

