An infantile case of Zellweger syndrome presented with Kabuki-like phenotype.

TítuloAn infantile case of Zellweger syndrome presented with Kabuki-like phenotype.
Tipo de PublicaciónJournal Article
Nuevas Publicaciones2011
AutoresEzgu E, Eminoglu T, Okur I, Gunduz M, Tumer L, Hasanoglu A, Dalgic B
JournalGenetic counseling (Geneva, Switzerland)
Año de publicación2011
Palabras claveAbnormalities, Multiple, Child, Preschool, Diagnosis, Differential, Face, Hematologic Diseases, Humans, Liver, Liver Function Tests, Male, Phenotype, Vestibular Diseases, Zellweger Syndrome

Zellweger syndrome is a peroxisomal disorder resulting from the mutations in PEX genesi 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 congenitali anomalies and mental retardation syndrome with characteristic facial appearance, skeletal abnormalities, dermatoglyphic abnormalities, mental retardation and short stature. Abnormal liver functions and some atypicali 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 phenotypei in addition to abnormal liver functions is emphasized.

Alternate JournalGenet. Couns.
Citation Key940
PubMed ID21848015