Síndrome Tóraco-abdominal: Reporte de um Caso em um Museu de Morfologia

DOI:  https://doi.org/10.12804/revistas.urosario.edu.co/revsalud/a.5765

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Published: Jun 2, 2017
Issue: Vol. 15 No. 2 (2017): Ciencias de la Salud
Section Case Study


Keywords: Thoracoabdominal syndrome pentalogy of Cantrell.

Main Article Content

Authors

Sebastián Ayala Zapata
Universidad del Valle, Cali, Colombia.
Néstor Alonso Perlaza
Departamento de Morfología, Escuela de Ciencias Básicas, Facultad de Salud, Universidad del Valle. Departamento de Morfología, Escuela de Ciencias Básicas, Facultad de Salud, Universidad Libre Cali, Colombia.
Julio Noguera
Universidad Libre, Cali, Colombia.
Alejandra Calle
Universidad Libre, Cali, Colombia.
Wilmar Saldarriaga
Unidad Estratégica de Servicios de ginecología y Obstetricia del Hospital Universitario del Valle Evaristo García. Cali, Colombia. Departamentos de Morfología y Gineco-Obstetricia, Escuelas de Ciencias Básicas y Medicina, Facultad de Salud, Universidad del Valle, Cali, Colombia.

Abstract

Introduction: The thoracoabdominal syndrome (TAS) is characterized by the inconstant association between thoracoabdominal wall defects and other midline defects, which have been recently included on the pentalogy of Cantrell within its spectrum of presentation. It has been postulated that the etiology corresponds to an alteration in the region Xq25-Xq26,1 with a dominant inheritance pattern linked to chromosome X and complete penetrance. Prevalence of this syndrome is unknown. Case presentation: Case report of a fetus that belongs to the collection at the Museum of Morphology at Universidad Libre (Cali-Colombia) which was subjected to a process of macroscopic inspection by segments, made by a morphologist and a geneticist, who reported the presence of left cleft lip and cleft palate, syndactyly, thoracoabdominal defect with protrusion of multiple organs, including the heart, severe scoliosis, absence of sternum and clubfoot. Conclusions: A male fetus with macroscopic findings of severe midline defects in face and thoracoabdominal wall, including ectopia cordis was reported. Differential diagnosis with the pentalogy of Cantrell and limb-body wall complex was made. With the sum of findings, it was concluded that the definitive diagnosis for this case was TAS.

 

 

Author Biographies

Sebastián Ayala Zapata, Universidad del Valle, Cali, Colombia.

Universidad del Valle, Cali, Colombia.

Néstor Alonso Perlaza, Departamento de Morfología, Escuela de Ciencias Básicas, Facultad de Salud, Universidad del Valle. Departamento de Morfología, Escuela de Ciencias Básicas, Facultad de Salud, Universidad Libre Cali, Colombia.

MSC.  Departamento de Morfología, Escuela de Ciencias Básicas, Facultad de Salud, Universidad del Valle. Departamento de Morfología, Escuela de Ciencias Básicas, Facultad de Salud, Universidad Libre Cali, Colombia.

Julio Noguera, Universidad Libre, Cali, Colombia.

Universidad Libre, Cali, Colombia.

Alejandra Calle, Universidad Libre, Cali, Colombia.

Universidad Libre, Cali, Colombia.

Wilmar Saldarriaga, Unidad Estratégica de Servicios de ginecología y Obstetricia del Hospital Universitario del Valle Evaristo García. Cali, Colombia. Departamentos de Morfología y Gineco-Obstetricia, Escuelas de Ciencias Básicas y Medicina, Facultad de Salud, Universidad del Valle, Cali, Colombia.

MD., MSC. Unidad Estratégica de Servicios de ginecología y Obstetricia del Hospital Universitario del Valle Evaristo García. Cali, Colombia. Departamentos de Morfología y Gineco-Obstetricia, Escuelas de Ciencias Básicas y Medicina, Facultad de Salud, Universidad del Valle, Cali, Colombia.
How to Cite
Ayala Zapata, S., Perlaza, N. A., Noguera, J., Calle, A., & Saldarriaga, W. (2017). Síndrome Tóraco-abdominal: Reporte de um Caso em um Museu de Morfologia. Revista Ciencias De La Salud, 15(2), 293–299. https://doi.org/10.12804/revistas.urosario.edu.co/revsalud/a.5765
References

O’Neill MJF, McKusick VA. Thoracoabdominal syndrome: thas. Disponible en: http://omim.org/ entry/313850

Martin R, Cunniff C, Erickson L, Jones KL. Pentalogy of Cantrell and ectopia cordis, a familial developmental field complex. Am J Med Genet J. 1992;42(6):839-41.

Zucchi I, Jones J, Affer M, Montagna C, Redol E, Susani L, y cols. Transcription map of Xq27: candi- dates for several X-linked diseases. Genomics. 1999;57(2):209-18.

Pivnick EK, Kaufman RA, Gunther WM, Abramovici D. Infant with midline thoracoabdominal schisis and limb defects. Teratology. 1998;58(5):205-8.

Carmi R, Barbash A, Mares AJ. The thoracoabdominal syndrome (tas): a new X-linked dominant disorder. Am J Med Genet. 1990;36(1):109-14.

Carmi R, Meizner I, Katz M. Familial congenital diaphragmatic

defect and associated midline anomalies: Further evidence for an X-linked midline gene? Am J Med Genet. 1990;36(3):313-5.

Opitz J, Gilbert E. Editorial Comment: CNS Anomalies and the Midline as a “developmental field”. Am J Med Genet. 1982;12(4):443-55.

Czeizel A. Schisis-Association. Am J Med Genet. 1981;10(1):25-35.

Toriello HV, Higgins JV. X-linked midline defects. Am J Med Genet. 1985;21(1):143-6.

Lilly JR, Paul M, Rosser SB. Anterior diaphragmatic hernia: familial presentation. Birth Defects Orig Artic Ser. 1974;10(4):257-8.

Carmi R, JA B. Pentalogy of Cantrell and associated midline anomalies: A possible ventral midline developmental field. Am J Med Genet. 1992;42(1):90-5.

Jafarian AH, Omidi AA, Fazel A, Sadeghian H, Joushan B. Pentalogy of Cantrell: Acasereport. J Res Med Sci. 2011;16(1):105-9.

SaldarriagaW.PentalogíadeCantrell.Reportedecaso.RevCientí caSaludUninorte.2014;30(3):505-12.

Engum SA. Embryology, sternal clefts, ectopia cordis, and Cantrell’s pentalogy. Semin Pediatr Surg. 2008;17(3):154-60.

Saldarriaga-Gil W, Ayala-Zapata S, Ramirez-Cheyne J, Isaza C. Pentalogía de Cantrell y bandasamnióticas: reporte de un caso y revisión de la literatura. Rev Colomb Obstet Ginecol. 2014;65(3):243-9.

Carmi R, Parvari R, Weinstein J. Mapping of an X-linked gene for ventral midline defects (the tasgene). Am. J. Hum. Genet. 1993;53 (suppl.):A984.

Parvari R, Weinstein Y, Ehrlich S, Steinitz M, Carmi R. Linkage localization of the thoraco-abdominal syndrome (tas) gene to Xq25-26. Am J Med Genet. 1994;49(4):431-4.

ParvariR,CarmiR,WeissenbachJ,PiliaG,MummS,WeinsteinY.Re nedgeneticmappingofX-linked

thoracoabdominal syndrome. Am J Med Genet. 1996;61(4):401-2.

Chikkannaiah P, Dhumale H, Kangle R, Shekar R. Limb body wall complex: A rare anomaly. J Lab

Physicians. 2013;5(1):65-7.

van Allen MI, Curry C, Gallagher L. Limb body wall complex: I. Pathogenesis. Am J Med Genet.

;28(3):529-48.

Torpin R. Amniochorionic mesoblastic fibrous strings and amnionic bands: Associated constricting fetal malformations or fetal death. Am J Obs Gynecol. 1965;91:65-75.

Iqbal CW, Derderian SC, Cheng Y, Lee H, Hirose S. Amniotic band syndrome: a single-institutional experience. Fetal Diagn Ther. 2015;37(1):1-5.

Keerthi K, Vasantha K, Prasada RK. Prenatal diagnosis of body stalk complex: A rare entity and review of literature. Indian J Radiol Imaging. 2015;25(1):67-70.

Van Allen MI, Curry C, Walden CE, Gallagher L, Reynolds JF. Limb body wall complex: II. Limband spine defects. Am J Med Genet. 1987;28(3):549-65.

Hartwig NG, Vermeij-Keers C, De Vries HE, Kagie M, Kragt H. Limb body wall malformation complex: An embryologic etiology? Hum Pathol. 1989;20(11):1071-7.

Gajzer DC, Hirzel AC, Saigal G, Rojas CP, Rodriguez MM. Possible genetic origin of limb-body wall complex. Fetal Pediatr Pathol. 2015;34(4):257-70.

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