Naslov
Clinical characteristics and long survival of trisomy 18 in two girls

Autori
Serdarušić, Ivana ; Milas, Diana ; Pušeljić, Nora ; Tomac, Viišnja ; Pušeljić, Silvija ; Milas, Vesna

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
International Society for applied Biological Science - Program and abstracts / Primorac, Dragan ; Schanfield, Moses ; Pavlović, Stanimir Vuk ; Kayser, Manfred ; Ordog, Tamas - Zagreb, 2017, 229-229

ISBN
9789535769521

Skup
10th ISABS Conference on forensic and Antropologic Genetics and Mayo Clinic Lectures in Individualized Medicine

Mjesto i datum
Dubrovnik, Hrvatska, 19.06.2017. - 24.06.2017

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Trisomy 18, long survival, feeding problems, cardiovascular and cerebral malphormations
(ong survival, feeding problems, cardiovascular and cerebral malphormations)

Sažetak
Introduction:Trisomy 18 (Edward's syndrome) is a condition with incidence of 1:3-8000 births. More that 85% of such newborns die before birth. Median survival of the others is 15 days to 1 month. Less than 4% may survive their first year, most of them are girls.Case presentation:Two girls with regular trisomy were reported, one is 2, 5 and the other 4 years old. Both were born as prematures with intrauterine growth retardation by caesarian section. Both have clenched hands, rocker bottom feet and low set ears and short sternum. Cardiovascular malformations among them are: ventricular septal defect, ductus arteriosus persistence and persistent left venea cava superior. Both have cerebral malformations ; one has agenesis of corpus callosum and the other ventricular dilatation and cerebellar hypoplasia. Both girls are hypotonic and have eating problems.Conclusion:Even though most patients with Edward's syndrome will die in the first few weeks, a few of them will survive for many years. The management of such babies remains a challenging medical and ethical issue. The majority of their problems are: hypotony, epilepsy, feeding difficulties and susceptibility for infections.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA