Bone Abstracts

Background: Spondylo-epiphyseal dysplasia tarda (SEDT) is a rare late-onset X-linked recessive osteochondrodysplasia that mainly involves the epiphyses and vertebral bodies. Patients usually have short stature and early development of degenerative joint disease.Presenting problem: A 12-year-old boy was referred to our hospital for evaluation of short stature. His height was 125 cm (−3.03 SDS), weight was 22 kg (−0.5 SDS), arm span 130 cm. The...

Background: Lysinuric protein intolerance (LPI) is a rare autosomal recessive multisystemic metabolic disorder, caused by defective transport of cationic amino acids at the basolateral membrane of epithelial cells.Presenting problem: A 14-year-old boy was referred to our clinic for short stature. He was the second child of consanguineous healthy parents. He had previously suffered for 4 fractures occurred secondary to minimal trauma in the upper limbs. H...