Pallister-Hall syndrome associated with an unbalanced chromosome translocation.
We report 3 cases of Pallister-Hall syndrome involving hypothalamic hamartoblastoma, hypopituitarism, cranial, and limb abnormalities. The first 2 cases represent the first apparent sibs reported with this syndrome. Patient 1 represents the first known patient with this syndrome with an abnormal karyotype.
Kuller
J A
JA
Department of Pediatrics, University of California, San Francisco.
Cox
V A
VA
Schonberg
S A
SA
Golabi
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7; D005145:Face / Q000002:abnormalities; D006222:Hamartoma / Q000503:physiopathology; D006801:Humans; D007018:Hypopituitarism / Q000503:physiopathology; D007029:Hypothalamic Neoplasms / Q000503:physiopathology; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome; D014178:Translocation, Genetic / Q000235:genetics*