Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p224 | (1) | ICCBH2019

A teenager with recurrent fractures and multiple bone lesions: a diagnostic challenge

Seneviratne Sumudu Nimali , Kuruppu Piumi

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...

ba0007p225 | (1) | ICCBH2019

A short girl with severe scoliosis and osteoporosis

Seneviratne Sumudu Nimali , Kuruppu Piumi

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...

ba0007p139 | (1) | ICCBH2019

Growth hormone therapy in a child with severe short stature due to Miller-McKusick-Malvaux (3M) syndrome-2

Seneviratne Sumudu , Silva Deepthi de , Cottrell Emily , Kuruppu Piumi , Silva KSH de , Storr Helen

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...