Searchable abstracts of presentations at key conferences on calcified tissues

ba0002p165 | (1) | ICCBH2013

Morquio disease in two sisters: clinical case

de Beldjenna Liliana Mejia , Lamoglia Juan Javier

Background: Morquio disease was described by the Uruguayan pediatrician Luis Morquio. ItÂ’s a congenital disease caused by a deficiency of the N-acetilgalactosamine 6 sulfatase (MPS IV A) or B galactosidase (MPS IV B) and his frequency is 1/100 000 live births Accumulation of mucopolysacharides in tissues results in short stature, skeletal anomalies (vertebral column deformities), loss of hearing, visual anomalies (corneal opacities), cardiac, hepatic and respirat...

ba0002p170 | (1) | ICCBH2013

Achondroplasia: medical and orthopedic management in a pediatric patient

de Beldjenna Liliana Mejia , Lamoglia Juan Javier

Background: Achondroplasia is a genetic disorder wich affects bone growth leading to short stature. It occurs in 1 of every 25 000 live births and it is characteristized by short extremities, hyperlordosis, small hands and macrocephaly, with high forehead and saddle nose. Neurologic complications are due to narrowing of the vertebral foramen. Is transmitted as autosomal dominant and it is due to mutations of the FGFR3 gene witch codifies the fibroblastic receptor of G...

ba0002p176 | (1) | ICCBH2013

One case of pseudohypoparathyroidism, clinical characterisation, follow-up and treatment

Lamoglia Juan Javier , de Beldjenna Liliana Mejia

Background: Pseudohypoparathyroidism is characterized by a resistance to parathormone, with variable phenotypical and biochemical manifestations. With genetic disorder caused by heterozygous inactivating mutations in GNAS1, the gene encoding the alpha-chain of G(s), and is associated with short stature, obesity, brachydactyly, and sc ossifications. AHO patients with GNAS1 mutations on maternally inherited alleles also manifest resistance to multiple hormones (e.g. PTH, TSH, LH...