The major clinical feature that defines osteogenesis imperfecta (OI) is bone fragility. We
begin the chapter with a discussion of the history, prevalence, and classification of OI. After a …

Cleidocranial dysplasia (CCD) is an autosomal-dominant condition characterized by
hypoplasia/aplasia of clavicles, patent fontanelles, supernumerary teeth, short stature, and …

Although a fundamental goal of developmental science is to identify general processes of
change, developmental scientists rarely generalize beyond their specific content domains …

Publisher Summary This chapter discusses the collagen genes in which naturally occurring
or induced mutations have been characterized. It includes the genes that encode collagens …

A century of research on the development of walking has examined periodic gait over a
straight, uniform path. The current study provides the first corpus of natural infant locomotion …

This report identifies human skeletal diseases associated with mutations in WNT1. In 10
family members with dominantly inherited, early-onset osteoporosis, we identified a …

Objective: To determine the clinical outcomes of children with chronic recurrent multifocal
osteomyelitis (CRMO). Study design: Inception cohorts of children with CRMO were …

Background An activating mutation of the receptor for parathyroid hormone (PTH) and
parathyroid hormone–related peptide (PTHrP) was recently found in a patient with Jansen's …

Enchondromas are common benign cartilage tumors of bone. They can occur as solitary
lesions or as multiple lesions in enchondromatosis (Ollier and Maffucci diseases). Clinical …

methods. A multigeneration English/Canadian family with AD severe myopia was
ascertained. Myopes were healthy, with no clinical evidence of syndromic disease, anterior …