title: An infantile case of Zellweger syndrome presented with Kabuki-like phenotype.
abstract: Zellweger syndrome is a peroxisomal disorder resulting from the mutations in PEX genes generally presenting in the neonatal period with profound hypotonia seizures, inability to feed, liver cysts with hepatic dysfunction, chondrodysplasia punctata. Kabuki make-up syndrome is a multiple congenital anomalies and mental retardation syndrome with characteristic facial appearance, skeletal abnormalities, dermatoglyphic abnormalities, mental retardation and short stature. Abnormal liver functions and some atypical findings were also reported in some patients with Kabuki syndrome. In this report a case with late onset Zellweger syndrome who had some phenotypical findings which are also seen in Kabuki Syndrome will be presented. The inclusion of Zellweger syndrome into the differential diagnosis of the patients with Kabuki-like phenotype in addition to abnormal liver functions is emphasized.
authors.affiliation: Gazi University Faculty of Medicine, Department of Pediatric Metabolism, Division of Genetics and Molecular Diagnosis, Ankara, Turkey. fezgu@gazi.edu.tr
authors.forename: F
authors.initials: F
authors.lastname: Ezgu
authors.forename: T
authors.initials: T
authors.lastname: Eminoglu
authors.forename: I
authors.initials: I
authors.lastname: Okur
authors.forename: M
authors.initials: M
authors.lastname: Gunduz
authors.forename: L
authors.initials: L
authors.lastname: Tumer
authors.forename: A
authors.initials: A
authors.lastname: Hasanoglu
authors.forename: B
authors.initials: B
authors.lastname: Dalgic
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities; D006402:Hematologic Diseases / Q000175:diagnosis*; D006801:Humans; D008099:Liver / Q000503:physiopathology*; D008111:Liver Function Tests; D008297:Male; D010641:Phenotype; D015837:Vestibular Diseases / Q000175:diagnosis*; D015211:Zellweger Syndrome / Q000175:diagnosis* / Q000503:physiopathology