Genetic disorders involving the skeletal system arise through disturbances in the complex
processes of skeletal development, growth and homeostasis and remain a diagnostic …

The skeletal dysplasias (osteochondrodysplasias) are a heterogeneous group of more than
350 disorders frequently associated with orthopedic complications and varying degrees of …

Genetic disorders of the skeleton (skeletal dysplasias and dysostoses) are a large and
disparate group of diseases whose unifying features are malformation, disproportionate …

Thanatophoric dysplasia (TD), the most common neonatal lethal skeletal dysplasia, affects
one out of 20,000 live births. Affected individuals display features similar to those seen in …

Clinical, radiologic, and biochemical studies are presented of a patient with a previously
undescribed mucopolysaccharide storage disease. Clinical features include short stuature …

The secreted polypeptide noggin (encoded by the Nog gene) binds and inactivates
members of the transforming growth factor β superfamily of signalling proteins (TGFβ-FMs) …

The filamins are cytoplasmic proteins that regulate the structure and activity of the
cytoskeleton by cross-linking actin into three-dimensional networks, linking the cell …

X-linked dominant Conradi-Hünermann syndrome (CDPX2; MIM 302960) is one of a group
of disorders with aberrant punctate calcification in cartilage, or chondrodysplasia punctata …

Geleophysic (GD) and acromicric dysplasia (AD) belong to the acromelic dysplasia group
and are both characterized by severe short stature, short extremities, and stiff joints …

Standard growth curves for achondroplasia, the most common form of short-limbed
dwarfism, have been constructed based on measurements of height, growth velocity, upper …