Searchable abstracts of presentations at key conferences on calcified tissues

ba0006p105 | (1) | ICCBH2017

Low serum alkaline phosphatase is often not recognised by clinicians

Moylan Alex , Zulf Mughal M. , Wakeling Emma L. , Peeva Daniela , Jacobs Benjamin

Objective: The significance of low alkaline phosphatase (ALP) is often not recognised by clinicians. It is the hallmark of hypophosphatasia and this oversight leads to delays in diagnosis, inappropriate treatment and potentially harm. Using the standard that an abnormal result should be recognised by the clinician and the potential cause and need for further investigation documented in the medical records we conducted an audit of our practice at the Royal National Orthopaedic ...

ba0006p116 | (1) | ICCBH2017

Classical SATB2-associated syndrome with severe osteoporosis, recurrent bony fractures and tibial bowing

Jacobs Benjamin , Rose Anna M. , Zulf Mughal M. , Keen Richard , Wakeling Emma L.

Background: Mutations in SATB2 have been described in association with a unique phenotype known as SATB2-associated syndrome (SAS). This condition is characterised by severe intellectual disability affecting speech development, behaviour, facial features and dental anomalies. Skeletal features and osteoporosis have been reported in older individuals (aged 15–36), in association with point mutations. We report a 24-year-old man with a SATB2 misse...

ba0006p104 | (1) | ICCBH2017

Dietary calcium deficiency contributes to the causation of nutritional rickets (NR) in the United Kingdom (UK): data from the British Paediatric Surveillance Unit (BPSU) NR survey

Zulf Mughal M. , Calder Alistair , Blair Mitch , Julies Priscilla , Pall Karina , Lynn Richard , McDonnell Ciara , McDevitt Helen , Shaw Nick J.

Background: Rickets is a disorder of the growing child arising from impaired mineralisation of the growth plate and osteoid. The most common cause of NR in the UK is thought to be secondary to vitamin D deficiency [VDD; serum 25-hydroxyvitamin D (25OHD) <25 nmol/l], although in some African & South Asian countries dietary calcium deficiency (DCaD) by itself, or together with VDD is an important cause of NR (Ann Trop Paediatr. 2006;26:1–16). Currently, the data on ...