Pregled bibliografske jedinice broj: 441956
Carey-Fineman-Ziter syndrome: a report of a new patient and phenotype delineation
Carey-Fineman-Ziter syndrome: a report of a new patient and phenotype delineation // European Journal of Human Genetics
München, Njemačka, 2004. (poster, međunarodna recenzija, sažetak, znanstveni)
CROSBI ID: 441956 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Carey-Fineman-Ziter syndrome: a report of a new patient and phenotype delineation
Autori
Barišić, Ingeborg ; Petković, Giorgie
Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni
Izvornik
European Journal of Human Genetics
/ - , 2004
Skup
European Human Genetics Conference
Mjesto i datum
München, Njemačka, 12.06.2004. - 15.06.2004
Vrsta sudjelovanja
Poster
Vrsta recenzije
Međunarodna recenzija
Ključne riječi
Carey-Fineman-Ziter syndrome
Sažetak
Carey-Fineman-Ziter syndrome is a very rare disorder characterized by a dysmorphic face, Moebius and Robin sequences, congenital myopathy and growth retardation. Skeletal anomalies and developmental delay are occasionally present. Only 6 patients have been described so far, two sporadic cases and two pairs of siblings suggesting autosomal recessive inheritance. We report a 9-year old girl with remarkably similar anomalies.
Izvorni jezik
Engleski
Znanstvena područja
Kliničke medicinske znanosti
POVEZANOST RADA
Ustanove:
Klinika za dječje bolesti Medicinskog fakulteta
