P53Repetition of osteochondro‐dysplasia – a rare hereditary disorder of bones

Abstract

BackgroundOsteochondrodysplasia with defective bone mineralization is a rare hereditary disorder. It is characterized by bone structure defects and a deficiency of bone/liver/kidney alkaline phosphatase activity in serum and tissues.Case reportType 2a osteochondrodysplasia was detected in the first and second pregnancies of a 28‐year‐old woman. Fetal age was 20 and 17 gestational weeks, respectively. Ultrasonographical findings showed a soft, dilatated spine, narrow chest and short ribs as well as deformed bones and skull. An additional fetopathological finding ws hypomineralization of the skelet (diagnosed by hystopathology and X‐Ray examination). The disorder proved to be Infantile Hypophosphatasia (congenital lethal type).OutcomeBoth pregnancies were terminated after the diagnosis of the disorder.ConclusionIn order to detect this disorder, careful, repeated ultrasound exam should be performed in the first and second trimester. A Serum alkaline phosphatase level and elevated urinare phosphoethanolamine level of the family members may help to predict the disorder.