Extending the Pallister-Hall syndrome to include other central nervous system malformations.
Hall-Pallister syndrome is defined by specific facial anomalies, post axial polydactyly, imperforate anus, and brain anomalies including a rare diencephalic mass, hypothalamic hamartoblastoma. In this article, two patients are described with the usual features of Hall-Pallister syndrome, including diencephalic anomalies, but without hamartoblastomas. These patients may suggest an appropriate extension of the definition of the Hall-Pallister syndrome.
Finnigan
D P
DP
Division of Embryology, Teratology, and Congenital Defects, University of Washington School of Medicine, Seattle 98195.
Clarren
S K
SK
Haas
J E
JE
D000015:Abnormalities, Multiple; D001921:Brain / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*