title: DiGeorge syndrome with truncus arteriosus: report of one case.
abstract: DiGeorge syndrome is a rare disorder characterized by a spectrum of thymic and parathyroid gland abnormalities, conotruncal cardiac defects, and typical facial dysmorphism. We report a male infant with partial DiGeorge syndrome characterized by truncus arteriosus, typical facial dysmorphism, hypocalcemia, lymphocytopenia with T-cell deficiency, and chromosome 22q11.2 deletion. Transient lymphocytopenia was noted for 5 days after birth and hypocalcemia was corrected with calcium gluconate administration. Surgical correction of the truncus arteriosus was performed at the age of 3 months. Unfortunately, the patient subsequently had an unwitnessed cardiac arrest, and despite resuscitation, died at the age of 4 months.
authors.affiliation: Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Pei-Hsuan
authors.initials: PH
authors.lastname: Liang
authors.forename: Ming-Ren
authors.initials: MR
authors.lastname: Chen
authors.forename: Shyh-Dar
authors.initials: SD
authors.lastname: Shyur
authors.forename: Yann-Jinn
authors.initials: YJ
authors.lastname: Lee
authors.forename: Shuan-Pei
authors.initials: SP
authors.lastname: Lin
authors.forename: Ming-Tsung
authors.initials: MT
authors.lastname: Yu
authors.forename: Ing-Sh
authors.initials: IS
authors.lastname: Chiu
authors.forename: Shyh-Jye
authors.initials: SJ
authors.lastname: Chen
mesh_terms: D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004062:DiGeorge Syndrome / Q000235:genetics* / Q000473:pathology*; D017809:Fatal Outcome; D006323:Heart Arrest; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007230:Infant, Low Birth Weight; D007231:Infant, Newborn; D008297:Male; D014339:Truncus Arteriosus, Persistent / Q000000981:diagnostic imaging / Q000473:pathology* / Q000601:surgery; D014463:Ultrasonography