Pallister-Killian syndrome: Cytogenetic and biochemical studies

Pallister-Killian syndrome: a report of 2 cases and review of its surgical aspects

“…We found 11 patients with anorectal anomalies as part of the mosaic syndrome [3,5,6,9,11,15,16,[18][19][20][21]. When one includes the 2 newborns reported by us, this number rises to 13.…”

“…It was noted in 10 cases, but surgical repair was not mentioned in any child [20][21][22]. Omphalocele was diagnosed in one aborted fetus and one newborn only [1,5,9,10].…”

“…Omphalocele was diagnosed in one aborted fetus and one newborn only [1,5,9,10]. Seven patients with PKS were found to have bilateral or unilateral cryptorchidism [6,7,9,10,20,23]. One patient from this group was operated on, and the anesthetic aspects of this procedure were a subject of a separate case report [22].…”

Prenatal diagnosis of the Pallister‐Killian mosaic aneuploidy syndrome by CVS

“…Mosaic and nonmosaic tetrasomy 12p was detected prenatally in 6 cases of routine amniocentesis [Nahara et al, 1988;Soukup and Neidich, 1990, for review] and in 1 case of polyhydramnios and fetal ascites [Reynolds et al, 19871-A typical finding in the aborted fetuses and in neonatally deceased newborns with i(12p) mosaicism seems to be hypoplasia ofthe lungs [Nahara et al, 19881. Only 1 case with abnormal facial appearance, short femora, and clinodactyly showed only minor internal malformations [Soukup and Neidich, 19901.…”

Tetralogy of Fallot in a Patient with Killian–Pallister Syndrome

“…Congenital heart defects associated with this syndrome to date have included ventricular septal defect, coarctation of the aorta, patent ductus arteriosus, atrial septal defect, and aortic stenosis [3,6]. Hypertrophic cardiomyopathy has also been reported [11].…”