Bone Abstracts

Background: Ollier disease is a rare sporadic disorder where enchondromas develop close to the growth plate cartilage. Prevalence is around 1 in 100 000. Multiple enchondromas usually develop in childhood. Persons with Ollier disease are prone to pathological fractures. The disease carries a high risk of skeletal, visceral and brain malignancyPresenting problem: A 14-year-old boy presented with multiple fractures following trivial trauma. He first presen...

Background: Primary childhood osteoporosis is rare. We report a 9-year-old Sri Lankan girl with severe failure to thrive, scoliosis and low bone mineral density, with no apparent diagnosis.Presenting problem: A 9-year-old girl was referred for evaluation of short stature and scoliosis. She is the third living child of healthy non-consanguineous parents. She was born at term with low birth-weight (1.8 kg −2.9S.D.), birth length (43 cm...

Background: Metaphyseal Chondrodysplasia, Schmid Type(MDS) is a rare autosomal dominant disorder characterized by short stature, coxa vara and bow legs, with radiographs showing diffuse metaphyseal flaring and irregularity of tubular bones. We report a family with MDS from Sri Lanka, where diagnosis was made on family history and typical radiographic features.Presenting problem: A 5-year-old girl presented with asymmetrical bowing of lower limbs since 2&...

Background: 3M syndrome is a primordial growth disorder caused by mutations in CUL7, OBSL1 or CCDC8. Affected individuals have severe short stature for which growth hormone (GH) therapy may have a role1. We present a 10-year-old girl from Sri Lanka with 3M syndrome-2 due to a mutation in OBSL1 gene, with good short-term response to growth hormone therapy.Presenting Problem: The only child of second-degree consanguineous parents, both themselve...