Bone Abstracts

Today, there are more than 450 well-characterized genetic skeletal disorders classified primarily on the basis of clinical, radiographic, and molecular criteria. Although individually rare, the overall birth incidence is estimated to be 1/5000 live births. Half a century ago, in the 1960s, individuals with disproportionate short stature were diagnosed either with achondroplasia (short-limbed dwarfism) or Morquio syndrome (short-trunked dwarfism). In time, delineation of numero...

The human long bones are subject to multiple changes in utero based on a cascade of pathways and cellular signaling mechanisms. In endochondral ossification, cartilage is gradually replaced by bone, beginning with diaphyseal ossification at 8 weeks of gestation. The epiphyses located at both ends between the joint and the primary physis (growth plate) are initially cartilaginous and later develop secondary ossification. The primary physis is responsible for longitudin...

Biographical DetailsDr Yasemin Alanay, MD, PhD is a Pediatric Geneticist, Professor of Pediatrics at Acibadem University School of Medicine, Istanbul. She studied medicine at Hacettepe University, Ankara, completed her residency in Pediatrics in 2002. Completed Pediatric Genetics Fellowship at Hacettepe Ihsan Dogramaci Children’s Hospital. In 2006, she was mentored by Prof. D Rimoin ...