Hyaline cartilages, fibrocartilages and elastic cartilages play multiple roles in the human
body including bearing loads in articular joints and intervertebral discs, providing joint …

Since the identification in 1988 of bone morphogenetic protein 2 (BMP2) as a potent inducer
of bone and cartilage formation, BMP superfamily signalling has become one of the most …

The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now
contains 771 entries associated with 552 genes reflecting advances in molecular …

The application of massively parallel sequencing technology to the field of skeletal disorders
has boosted the discovery of the underlying genetic defect for many of these diseases. It has …

In the last decade, growing attention has been placed on joint hypermobility and related
disorders. The new nosology for Ehlers–Danlos syndrome (EDS), the best‐known and …

Purpose We propose a nosology for inborn errors of metabolism that builds on their recent
redefinition. Methods We established a strict definition of criteria to develop a self-consistent …

Children born small for gestational age (SGA), defined as a birth weight and/or length
below− 2 SD score (SDS), comprise a heterogeneous group. The causes of SGA are …

Osteogenesis imperfecta is a genetic disorder characterized by low bone mass, decreased
bone strength, increased bone fragility, and shortened stature. Autosomal dominant …

Cartilage oligomeric matrix protein (COMP) is a large pentameric glycoprotein that interacts
with multiple extracellular matrix proteins in cartilage and other tissues. While, COMP is …

Osteogenesis imperfecta (OI) is the most prevalent heritable bone fragility disorder in
children. It has been known for three decades that the majority of individuals with OI have …