American Journal of Medical Genetics 44540 (1992)
Letter to the Editor Pentalogy of Cantrell, Ectopia Cordis, and F’rontonasal Dysplasia To the Editor:
bly restricted to the face area. In the same context, it might also be relevant to consider the possibility that cases 1,3, and 5 described by Carmi and Boughman can be classified as frontonasal dysplasias types B or C of Sedano, although additional information is necessary to arrive at this conclusion. Another interesting point in the article by Carmi and Boughman [19921, is the survival of case 2, which supports our statement concerning the feasibility of curative treatment in some of these cases, provided the intracardiac abnormalities are accurately assessed and properly corrected when it is possible [Medina-Escobedo et al., 19911.
In a recent issue, Carmi and Boughman [19921 published an article describing 5 cases of pentalogy of Cantrell, 3 of them associated with cleft lip with or without cleft palate. Al1 5 had ectopia cordis. In addition, the authors performed a literature survey and found 12 reported cases of cleft lip/palate associated with Cantrell’s pentalogy ventral midline defects, 10 of them also had ectopia cordis. Based on these findings, they proposed that the part of the ventral midline defined by the pentalogy of Cantrell has the properties of a developmental field. REFERENCES 1 would like to support this authors’ proposal, and share our own experience with 4 cases of ectopia cordis Carmi R, Boughman JA (1992): Pentalogy of Cantrell and associated [Medina-Escobedoet al., 19911. Two of our cases fulfilled midline anomalies:A possible ventral midline developmentalfield. Am J Med Genet 42:90-95. the criteria for the complete form of pentalogy of Cantrell and one case was an incomplete form due to the Medina-Escobedo G, Reyes-Mugica M, ,Arteaga-Martinez M (1991): Ectopia cordis: Autopsy findings in four cases. Pediatr Pathol absence of an abdominal wall or diaphragmatic defect. 11235-95. The remaining case could not be classified as pentalogy Sedano HO, Cohen MM, Jirasek J, Gorlin RJ (1970):Ftonbnasal dysof Cantrell since there were no defects of the lower sterplasia. J Pediatr 76:906-913. num, abdominal wall or diaphragm, but instead, it presented an association of superior sternal defect, pericarMiguel Reyes-Mugica dial defect, thoracic ectopia cordis, and frontonasal Department of Pathology dysplasia, expressed as bifid cranium and nose. n o n The Children’s Memorial Hospital tonasal dysplasia is a midline defect, classified into 4 Northwestern University Medical School groups according to Sedano et al. U9701, although these Chicago, Illinois authors suggested that the defect in this entity is proba-
Fieceived for publication January 16, 1992. Address reprint requests to Miguel Reyes-Mugica, M.D., Department of Pathology, Box 17, The Children’s Memorial Hospital, 2300 Children’s Plaza, Chicago, IL 60614.
O 1992 Wiley-Liss, Inc.
Letter to the Editor Pentalogy of Cantrell, Ectopia Cordis, and F’rontonasal Dysplasia To the Editor:
bly restricted to the face area. In the same context, it might also be relevant to consider the possibility that cases 1,3, and 5 described by Carmi and Boughman can be classified as frontonasal dysplasias types B or C of Sedano, although additional information is necessary to arrive at this conclusion. Another interesting point in the article by Carmi and Boughman [19921, is the survival of case 2, which supports our statement concerning the feasibility of curative treatment in some of these cases, provided the intracardiac abnormalities are accurately assessed and properly corrected when it is possible [Medina-Escobedo et al., 19911.
In a recent issue, Carmi and Boughman [19921 published an article describing 5 cases of pentalogy of Cantrell, 3 of them associated with cleft lip with or without cleft palate. Al1 5 had ectopia cordis. In addition, the authors performed a literature survey and found 12 reported cases of cleft lip/palate associated with Cantrell’s pentalogy ventral midline defects, 10 of them also had ectopia cordis. Based on these findings, they proposed that the part of the ventral midline defined by the pentalogy of Cantrell has the properties of a developmental field. REFERENCES 1 would like to support this authors’ proposal, and share our own experience with 4 cases of ectopia cordis Carmi R, Boughman JA (1992): Pentalogy of Cantrell and associated [Medina-Escobedoet al., 19911. Two of our cases fulfilled midline anomalies:A possible ventral midline developmentalfield. Am J Med Genet 42:90-95. the criteria for the complete form of pentalogy of Cantrell and one case was an incomplete form due to the Medina-Escobedo G, Reyes-Mugica M, ,Arteaga-Martinez M (1991): Ectopia cordis: Autopsy findings in four cases. Pediatr Pathol absence of an abdominal wall or diaphragmatic defect. 11235-95. The remaining case could not be classified as pentalogy Sedano HO, Cohen MM, Jirasek J, Gorlin RJ (1970):Ftonbnasal dysof Cantrell since there were no defects of the lower sterplasia. J Pediatr 76:906-913. num, abdominal wall or diaphragm, but instead, it presented an association of superior sternal defect, pericarMiguel Reyes-Mugica dial defect, thoracic ectopia cordis, and frontonasal Department of Pathology dysplasia, expressed as bifid cranium and nose. n o n The Children’s Memorial Hospital tonasal dysplasia is a midline defect, classified into 4 Northwestern University Medical School groups according to Sedano et al. U9701, although these Chicago, Illinois authors suggested that the defect in this entity is proba-
Fieceived for publication January 16, 1992. Address reprint requests to Miguel Reyes-Mugica, M.D., Department of Pathology, Box 17, The Children’s Memorial Hospital, 2300 Children’s Plaza, Chicago, IL 60614.
O 1992 Wiley-Liss, Inc.
