coxa vara/hearing loss

Osteogenesis imperfecta is a heritable group of collagen-related disorders that affects up to 50,000 people in the United States. Although the disease is most symptomatic in childhood, adults with osteogenesis imperfecta also are affected by the sequelae of the disease. Orthopaedic manifestations

Heterozygous sequence variants of the COL2A1 gene cause a phenotypic spectrum collectively called type II collagenopathies. Here, we describe a COL2A1 sequence variant, c.2957C>T, p.Pro986Leu in the triple helical domain, which is a Y-position substitution in exon 41 of the repeating triplet

A female who was born after a gestation of 37 weeks without incident. A caesarean was performed due to cephalopelvic disproportion. She had no clavicles, dehiscence of the sagittal suture, large anterior fontanelle and occipital prominence. A chest x-ray, abdominal and brain ultrasound and