Carey-Fineman-Ziter syndrome: a report of a new patient and phenotype delineation (CROSBI ID 558087)
Prilog sa skupa u zborniku | sažetak izlaganja sa skupa | međunarodna 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 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.
Carey-Fineman-Ziter syndrome
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
Podaci o prilogu
93-x.
2004.
objavljeno
Podaci o matičnoj publikaciji
European Journal of Human Genetics
Podaci o skupu
European Human Genetics Conference
poster
12.06.2004-15.06.2004
München, Njemačka