Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity?
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.
Unsinn
K M
KM
University Children's Hospital, Innsbruck, Austria.
Neu
N
N
Krejci
A
A
Posch
A
A
Menardi
G
G
Gassner
I
I
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*