Naslov
Diastrophic Dysplasia with a Cardiac Defect
(Diastrophic Dysplasia with a Cardiac defect)

Autori
Begović, Davor ; Ivković-Jureković, Irena ; Marinović, Branko

Izvornik
Croatian medical journal (0353-9504) 35 (1994), 3; 172-176

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, stručni

Ključne riječi
diastrophic dysplasia ; dwarfism ; osteochondroplasia

Sažetak
Dyastrophic dysplasia is a hereditary syndrome characterized by short stature and dysplastic changes in chondro-osseous tissue, which allows an unequivocal diagnosis in the postnatal period. The disease is inherited as an autosomal recessive trait and the locus for dyastrophic dysplasia has been discovered on the distal part of the long arm of chromosome 5. Prenatal diagnosis is possible by means of ultrasonography or molecular DNA genetic analysis of amniotic fluid cells. Here we describe a newborn with dyastrophic dysplasia and congenital heart defect (double outlet right ventricle with ventricular septal defect and patent foramen ovale). This is an extremely rare disorder in Croatia.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA