Searchable abstracts of presentations at key conferences on calcified tissues

ba0006p073 | (1) | ICCBH2017

Spectrum of paediatric hypophosphataemic rickets in a tertiary centre

Cottrell Emily , Mushtaq Talat

Background: Hypophosphataemic rickets is a rare form of rickets characterised by hypophophatamaemia and hyperphosphaturia. Children can present with bowed legs, gait abnormalities or persisting rickets. Occasionally the clinical and biochemical features may be mild. It is most commonly caused by a mutation in the phosphate-regulating endopeptidase homolog, X-linked (PHEX) gene which leads to an elevated FGF23.Objectives: We wished to review our cohort of...

ba0006p206 | (1) | ICCBH2017

Lysinuric protein intolerance associated with vertebral fractures and IGF-I deficiency

Cottrell Emily , Mushtaq Talat

Background: Lysinuric Protein Intolerance (LPI) is a rare autosomal recessive metabolic disorder affecting amino acid transport. The condition typically presents at weaning, with recurrent diarrhoea and vomiting especially following protein rich meals. It may have a multisystem clinical presentation including growth and haematological abnormalities and rarely osteoporosis. The diagnosis is based on biochemical findings, including increased urine and reduced plasma concentratio...

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...