Severe Pallister-Hall syndrome with persistent urogenital sinus, renal agenesis, imperforate anus, bilateral hypothalamic hamartomas, and severe skeletal anomalies.
Department of Medical Genetics Services, Marshfield Clinic, Marshfield, Wisconsin.
Elizabeth
E
McPherson
Christopher
C
Cold
D001344:Autopsy; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D054975:Pallister-Hall Syndrome / Q000175:diagnosis*; D010641:Phenotype; D012720:Severity of Illness Index