Trisomy 18 Syndrome with Incomplete Cantrell Syndrome

Abstract

The pentalogy of Cantrell was first described in 1958 by Cantrell and coworkers, who reported five cases in which they described a pentad of findings including a midline supraumbilical thoracoabdominal wall defect, a defect of the Lower sternum, abnormalities of the diaphragmatic pericardium and the anterior diaphragm, and congenital cardiac anomalies. Trisomy 18 has an incidence of about 0.3 per 1000 newborns. We present a case of trisomy 18 with incomplete Cantrell syndrome. The patient presented with hypogenesis of the corpus callosum, vermian-cerebellar hypoplasia (Dandy-Walker variant), ventricular septal defect, dextrocardia, patent ductus arteriosus, a defect of the lower sternum, a midline supraumbilical abdominal wall defect with omphalocele, congenital left posterior diaphragmatic hernia (Bochdalek hernia), micrognathia, low-set and malformed ears, rocker-bottom feet, dorsiflexed hallux, hypoplastic nails, short neck, and wrist deformity. Trisomy 18 syndrome was unusually combined with the pentalogy of Cantrell. We present this case because of its rarity and high risk of mortality.

Pentalogy of Cantrell associated with unilateral anophthalmia

“…In both cases, other anomalies were present, including bilateral clubfeet, spina bifida, hydrocephalus, abnormal ears, horseshoe kidneys, hypogenesis of the corpus callosum, and vermian-cerebellar hypoplasia (Dandy–Walker variant). [ 4 , 5 ]…”

The incomplete pentalogy of Cantrell – A case report

“…There are also other anomalies that may be present alongside PC, these include the following: (1) asplenia described by Ludwiq et al [9]; (2) tetralogy of Fallout, gallbladder agenesis and polysplenia -described by Bittmann et al [10]; (3) trisomy 18 -described by Hou et al [11]; (4) central nervous system anomalies like craniorachischisis -described by Polat et al [13]; (5) bilateral cleft lip and palate -described by Jafarian et al [14].…”

Co‐occurrence of severe Goltz–Gorlin syndrome and pentalogy of Cantrell – Case report and review of the literature

“…Chromosome imbalances have been reported [Soper et al, 1986;Bick et al, 1988;Fox et al, 1988;Khoury et al, 1988;Hou et al, 2008]. Various etiological hypotheses have been put forward, such as an early amniotic sac rupture [Kaplan et al, 1985], amnion bands [Samson and Viljoen, 1995], a developmental field defect [Carmi and Boughman 1992;Martin et al, 1992;Korver et al, 2008], disturbance of mesoderm formation in very early embryonic life [Vazquez-Jimenez et al, 1998], and a vascular origin [Rashid and Muraskas, 2007].…”