Reumatizam, Vol. 66 No. 1, 2019.
Pregledni rad
https://doi.org/10.33004/reumatizam-66-1-5
THE IMPORTANCE OF ANTENATAL ULTRASOUND SCREENING FOR CONGENITAL OSTEOCHONDRODYSPLASIA – TWO CASE REPORTS
Ivka Djaković
; Klinika za ženske bolesti i porodništvo, Klinički bolnički centar Sestre milosrdnice, Zagreb, Hrvatska
Vesna Gall
; Klinika za ženske bolesti i porodništvo, Klinički bolnički centar Sestre milosrdnice, Zagreb, Hrvatska
Vanja Saftić
; Poliklinika za zaštitu djece, Zagreb, Hrvatska
Petra Radulović
; Klinički zavod za patologiju „Ljudevit Jurak“, Klinički bolnički centar Sestre milosrdnice, Zagreb, Hrvatska
Nada Bilić
; Zavod za anesteziologiju, intenzivnu medicinu i liječenje boli, Klinički bolnički centar Sestre milosrdnice, Zagreb, Hrvatska
Vesna Košec
; Klinika za ženske bolesti i porodništvo, Klinički bolnički centar Sestre milosrdnice, Zagreb, Hrvatska
Sažetak
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.
Ključne riječi
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
Datum izdavanja:
16.10.2019.
Posjeta: 2.081 *