Endocrine Abstracts

The skeletal dysplasias are a heterogeneous group of over 450 conditions characterised by abnormalities in growth, development, or differentiation of the skeleton. They are classified according to the International Nosology and Classification of Genetic Skeletal Disorders into 40 different classes reflecting the broad range of phenotypes which vary in severity from perinatal lethality to mild short stature. Broadly, they can be divided into conditions affecting bone mineral ho...

Introduction: The chondrodysplasias are a heterogeneous group of genetic conditions affecting growth and form of the skeleton. As genetic knowledge has improved and genetic testing has become increasingly available, we hypothesize that over the past 10 years there has been an increase in the number of children where a genetic diagnosis is reached.Aims: To ascertain if there had been an increase in the number of chondrodysplasias confirmed by genetic test...

Introduction: Hypophosphatasia is a very rare inherited condition due to ALPL variants and is associated with a variable presentation.Case description: The index case initially presented at 7 months with bulging anterior fontanelle, failure to thrive and mild developmental delay. She was born at 34 weeks gestation and had amniotic bands causing digital anomalies. She was sitting at 8 months, crawling by 15 months and a hearing test was normal. A...

Introduction: As there are scarce data on the clinical case load and multidisciplinary input provided for patients with osteogenesis imperfecta (OI), we performed a survey of patients with OI attending bone and genetic clinics in Glasgow.Methods: Clinical details of 53 children(M:28) and 23 adults(M:9) were obtained by a review of case records.Results: The median age at presentation in children was 4.5 yrs (range 0.2–13.5), wi...