Reumatizam, Vol. 66 No. 1, 2019.
Review article
https://doi.org/10.33004/reumatizam-66-1-5
THE IMPORTANCE OF ANTENATAL ULTRASOUND SCREENING FOR CONGENITAL OSTEOCHONDRODYSPLASIA – TWO CASE REPORTS
Ivka Djaković
; Department of Gynecology and Obstetrics, Sestre Milosrdnice University Hospital Center, Zagreb, Croatia
Vesna Gall
; Department of Gynecology and Obstetrics, Sestre Milosrdnice University Hospital Center, Zagreb, Croatia
Vanja Saftić
; 2Child Protection Center of Zagreb, Zagreb, Croatia
Petra Radulović
; Ljudevit Jurak Department of Pathology, Sestre Milosrdnice University Hospital Center, Zagreb, Croatia
Nada Bilić
; Department of Anesthesiology and Intensive Care, Sestre Milosrdnice University Hospital Center, Zagreb, Croatia
Vesna Košec
; Department of Gynecology and Obstetrics, Sestre Milosrdnice University Hospital Center, Zagreb, Croatia
Abstract
Osteochondrodysplasias comprise a large, genetically heterogeneous group of disorders characterized by abnormalities
of cartilage and bone growth. They are often associated with abnormalities in other organ systems. They are
classified as lethal or non-lethal skeletal dysplasias. Thanatophoric dysplasia is the most common form of lethal skeletal
dysplasia with an incidence of 0.69 per 10.000 births. Heterozygous achondroplasia is the most common non-lethal dysplasia with an incidence of 0.15 per 10.000 births. We will present two cases of skeletal dysplasia. The first case is the case of lethal osteochondrodysplasia in the fetus of a 41-year-old multiparous woman, who came to our hospital in active preterm labor, in the 33th week of uncontrolled pregnancy. The second case is the case of non-lethal osteochondrodysplasia in the fetus of a 31-year-old multiparous woman. The fetal short femur length was detected in the 30th week of pregnancy.
Keywords
Thanatophoric dysplasia – diagnostic imaging; Achondroplasia – diagnostic imaging; Ultrasonography, prenatal – methods; Imaging, three-dimensional; Fetal diseases – diagnostic imaging; Bone and bones – abnormalities
Hrčak ID:
226243
URI
Publication date:
16.10.2019.
Visits: 1.485 *