American Journal of Medical Genetics 42:839-841 (1992)
Pentalogy of Cantrell and Ectopia Cordis, a Familial Developmental Field Complex Rick A. Martin, Christopher Cunniff, Lars Erickson, and Kenneth Lyons Jones Division of Dysmorphology, Department of Pediatrics, University of California, San Diego, California (RA . M . , K.L.J.), Department of Pediatrics, Balboa Naval Hospital, San Diego, California (L.E.), and Department of Pediatrics, University of Arkansas, Little Rock, Arkansas (C.C.) The association of sternal fusion defects with various cardiac, diaphragmatic, and anterior body wall defects represents a developmental field complex that includes the Pentalogy of Cantrell and ectopia cordis. No familial cases have been reported previously. We present 3 consecutively born brothers with extensive diaphragmatic defects, 2 who had the Pentalogy of Cantrell. One of the 2 also had ectopia cordis.
KEY WORDS: Pentalogy of Cantrell, ectopia cordis, anterior diaphragmatic hernia, midline, developmental field, X-linked INTRODUCTION Ectopia cordis (extrathoracic heart) is a rare malformation a t the most severe end Of a spectrum of anterior body wall defects involving sternal fusion abnormalities. Within this spectrum lies the association of sternal clefts, pericardial defects, cardiac defects, anterior diaphragmatic deficiency and ventral wall defects known as the Pentalogy of Cantrell. Several reviews describing this heterogeneous group of conditions lack any reference to familial recurrence [Cantrell et al., 1958; Crittenden et al., 1959; Kanagasuntheram and Verzin, 1962; Leca et al., 1989; Toyama, 19721. We have evaluated 3 brothers each with extensive diaphragmatic deficiency that includes the anterior diaphragm. The first born child had absence of both hemidiaphragms but was otherwise normal from a structural standpoint. The next 2 boys each had all 5 defects described by Cantrell et al. [ 19581and one of them also had ectopia cordis. The purpose of this report is to document the first recurrence of this type of anterior body wall
Received for publication August 12,1991; revision received September 23, 1991. Address reprint requests to Kenneth Lyons Jones, M.D., University of California San Diego Medical Center, Department of Pediatrics, 225 Dickinson St., H814B, San Diego, CA 92103.
0 1992 Wiley-Liss, Inc.
defect in a family and propose that it is caused by an X-linked gene operating on the midline.
CLINICAL REPORT The propositus was delivered at 38 weeks gestation to a 35-year-old G3P2 mother via cesarean section after a pregnancy in which a diaphragmatic hernia, single ventricle with hypoplastic great artery, and ectopia cordis were documented by ultrasonography. At delivery the male infant was immediately intubated and stabilized but the parents elected withdrawal of life support several hours later after severe pulmonary hypoplasia was confirmed. His birth weight was 1,950 g (
Pentalogy of Cantrell and Ectopia Cordis, a Familial Developmental Field Complex Rick A. Martin, Christopher Cunniff, Lars Erickson, and Kenneth Lyons Jones Division of Dysmorphology, Department of Pediatrics, University of California, San Diego, California (RA . M . , K.L.J.), Department of Pediatrics, Balboa Naval Hospital, San Diego, California (L.E.), and Department of Pediatrics, University of Arkansas, Little Rock, Arkansas (C.C.) The association of sternal fusion defects with various cardiac, diaphragmatic, and anterior body wall defects represents a developmental field complex that includes the Pentalogy of Cantrell and ectopia cordis. No familial cases have been reported previously. We present 3 consecutively born brothers with extensive diaphragmatic defects, 2 who had the Pentalogy of Cantrell. One of the 2 also had ectopia cordis.
KEY WORDS: Pentalogy of Cantrell, ectopia cordis, anterior diaphragmatic hernia, midline, developmental field, X-linked INTRODUCTION Ectopia cordis (extrathoracic heart) is a rare malformation a t the most severe end Of a spectrum of anterior body wall defects involving sternal fusion abnormalities. Within this spectrum lies the association of sternal clefts, pericardial defects, cardiac defects, anterior diaphragmatic deficiency and ventral wall defects known as the Pentalogy of Cantrell. Several reviews describing this heterogeneous group of conditions lack any reference to familial recurrence [Cantrell et al., 1958; Crittenden et al., 1959; Kanagasuntheram and Verzin, 1962; Leca et al., 1989; Toyama, 19721. We have evaluated 3 brothers each with extensive diaphragmatic deficiency that includes the anterior diaphragm. The first born child had absence of both hemidiaphragms but was otherwise normal from a structural standpoint. The next 2 boys each had all 5 defects described by Cantrell et al. [ 19581and one of them also had ectopia cordis. The purpose of this report is to document the first recurrence of this type of anterior body wall
Received for publication August 12,1991; revision received September 23, 1991. Address reprint requests to Kenneth Lyons Jones, M.D., University of California San Diego Medical Center, Department of Pediatrics, 225 Dickinson St., H814B, San Diego, CA 92103.
0 1992 Wiley-Liss, Inc.
defect in a family and propose that it is caused by an X-linked gene operating on the midline.
CLINICAL REPORT The propositus was delivered at 38 weeks gestation to a 35-year-old G3P2 mother via cesarean section after a pregnancy in which a diaphragmatic hernia, single ventricle with hypoplastic great artery, and ectopia cordis were documented by ultrasonography. At delivery the male infant was immediately intubated and stabilized but the parents elected withdrawal of life support several hours later after severe pulmonary hypoplasia was confirmed. His birth weight was 1,950 g (
