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P53Repetition of osteochondro‐dysplasia – a rare hereditary disorder of bones
Author(s) -
Sipos S.,
Marton T.,
Ujházy A.,
Rigó Jr J.
Publication year - 2000
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.2000.00004-1-53.x
Subject(s) - hypophosphatasia , medicine , osteochondrodysplasia , congenital disorder , elevated alkaline phosphatase , skeletal disorder , genetic disorder , alkaline phosphatase , hyperostosis , osteogenesis imperfecta , pathology , pediatrics , surgery , osteoporosis , biochemistry , chemistry , disease , enzyme
Background Osteochondrodysplasia 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 report Type 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). Outcome Both pregnancies were terminated after the diagnosis of the disorder. Conclusion In 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.