ESPE Abstracts

Acromelic dysplasia is a rare inherited bone dysplasia with 2 subtypes acromicric and gelophysic dysplasia. The prevalence is estimated <1/1 000 000, This condition is inherited either in an autosomal dominant pattern due to FBN1 mutations or in an autosomal recessive pattern due to ADAMTSL2 mutations characterised by growth drawfism, disproportionate short hands and feet, mild facial abnormalities, and characteristic x ray bones abnormalities. The condition appered to be s...

Background: Fanconi–Bickel syndrome (FBS) is a rare glycogen storage disease characterized by hepato-renal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism. We present the case histories of two sisters who were diagnosed with FBS.Case reports: The proband, Lina, was referred to our clinic for growth retardation and abdominal distention aged 27 months. She is the 4th child of consanguineous parents...