FGFR2 and abnormal mineralization disorder: This, combined with the results of the analysis of segregation of the variant in the probands family, that showed the same variant was present in the father and sister both of whom presented bone mineralization disorders (the father has had multiple bone fractures in childhood and the sister presents with genu valgum, hip dysplasia, combined thoracolumbar scoliosis and decreased signs of osteoporosis according to the densitometry), leads us to believe that the variant in FGFR2 found in our proband and his relatives is related to their phenotype.