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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

Barišić, Ingeborg ; Petković, Giorgie Carey-Fineman-Ziter syndrome: a report of a new patient and phenotype delineation // European Journal of Human Genetics. 2004. str. 93-x

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

Povezanost rada

Kliničke medicinske znanosti