Carey-Fineman-Ziter syndrome: a report of a new patient and phenotype delineation (CROSBI ID 558079)
Prilog sa skupa u zborniku | sažetak izlaganja sa skupa | domaća recenzija
Podaci o odgovornosti
Barišić, Ingeborg ; Petković, Giorgie
engleski
Carey-Fineman-Ziter syndrome: a report of a new patient and phenotype delineation
Carey-Fineman-Ziter syndrome (MIM 254940) (CFZ) is a rare disorder characterized by dysmorphic facial features, Moebius and Pierre Robin (PR) sequences, congenital myopathy, skeletal anomalies and growth retardation. Only 6 patients have been described so far, two sporadic cases and two pairs of siblings suggesting autosomal recessive inheritance (Carey et al, 1982, Schimke et al, 1993. Baraister et al, 1994, Ryan et al., 1999). We have recently evaluated a 9-year old girl with a pattern of anomalies that remarkably fit into previously described clinical phenotype.
Carey-Fineman-Ziter
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Podaci o prilogu
546-546.
2004.
objavljeno
Podaci o matičnoj publikaciji
Zbornik sažetaka postera znanstvenih novaka izlaganih u inozemstvu 2002., 2003. i 2004. godine
Podaci o skupu
Prvi kongres hrvatskih znanstvenika iz domovine i inozemstva,
poster
15.11.2004-19.11.2004
Vukovar, Hrvatska; Zagreb, Hrvatska