title: Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity?
abstract: The Pallister-Hall syndrome is characterised by specific facial anomalies, postaxial polydactyly, imperforate anus, and brain anomalies including a diencephalic hamartoblastoma. The hallmarks of the McKusick-Kaufmann syndrome are hydrocolpos owing to vaginal atresia, postaxial polydactyly, imperforate anus, and congenital heart defects. We report a patient with the unique features of hydrocolpos, postaxial polydactyly, and hypothalamic hamartoblastoma and discuss the different aetiological considerations of both syndromes and implications for clinical management.
authors.affiliation: University Children's Hospital, Innsbruck, Austria.
authors.forename: K M
authors.initials: KM
authors.lastname: Unsinn
authors.forename: N
authors.initials: N
authors.lastname: Neu
authors.forename: A
authors.initials: A
authors.lastname: Krejci
authors.forename: A
authors.initials: A
authors.lastname: Posch
authors.forename: G
authors.initials: G
authors.lastname: Menardi
authors.forename: I
authors.initials: I
authors.lastname: Gassner
mesh_terms: D000015:Abnormalities, Multiple; D001003:Anal Canal / Q000002:abnormalities; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006222:Hamartoma; D006330:Heart Defects, Congenital; D006801:Humans; D006869:Hydronephrosis; D007223:Infant; D017689:Polydactyly; D013577:Syndrome; D013786:Thalamic Diseases; D014521:Urethra / Q000002:abnormalities; D014621:Vagina / Q000002:abnormalities*