Resumen

SALDARRIAGA-GIL, Wilmar; LIZCANO-GONZALEZ, Katherine  y  RAMIREZ-CHEYNE, Julián Andrés. Osteogenesis imperfecta type IV originated in a rare variant of change of direction in COL1A2. CES Med. [online]. 2019, vol.33, n.3, pp.215-223. ISSN 0120-8705.  https://doi.org/10.21615/cesmedicina.33.3.7.

Osteogenesis imperfecta is a rare genetic anomaly characterized by low bone mass and increased susceptibility to fractures. The majority of cases are associated with variants in the COL1A1 and COL1A2 genes that code for type I collagen. It has been classified into four types, with type IV being the least frequent. We present a case of osteogenesis imperfecta type IV in a six-month-old girl, who had blue scleras and bilateral shortening of the femur and varus deviation of the tibia. X-rays showed craniofacial disproportion and wormian bones, atlanto-odontoid fusion; bilateral congenital bilateral coxo-femoral dislocation, shortening and deviation of the bilateral femur, old fracture in the right femur and generalized osteopenia. A molecular panel was carried out that included the ALPL, COL1A1, COL1A2 and IFITM5 genes, showing in COL1A2 a transition in guanine to adenine heterozygosis (c.2531G>A), a change associated with osteogenesis imperfecta. The objective of this report is to provide information on the clinical presentation, diagnostic methods and therapeutic possibilities of a rare genetic disease.

Palabras clave : Osteogenesis Imperfecta, Massively Parallel Sequencing; Collagen.

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