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Thoracoschisis

MedGen UID:
195781
•Concept ID:
C0685639
•
Congenital Abnormality
SNOMED CT: Thoracoschisis (95305004)

Definition

A congenital fissure of the thoracic wall. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVThoracoschisis

Professional guidelines

PubMed

Prenatal diagnosis of limb-body wall complex.
Negishi H, Yaegashi M, Kato EH, Yamada H, Okuyama K, Fujimoto S
J Reprod Med 1998 Aug;43(8):659-64. PMID: 9749415

Recent clinical studies

Etiology

The confused identity of Cantrell's pentad: ectopia cordis is related either to thoracoschisis or to a diaphragmatic hernia with an omphalocele.
Davies BR, Duran M
Pediatr Pathol Mol Med 2003 Sep-Oct;22(5):383-90. PMID: 14692189
Umbilical cord agenesis in limb body wall defect.
Craven CM, Carey JC, Ward K
Am J Med Genet 1997 Jul 11;71(1):97-105. doi: 10.1002/(sici)1096-8628(19970711)71:1<97::aid-ajmg18>3.0.co;2-q. PMID: 9215777

Diagnosis

Isolated thoracoschisis: Case report.
Ardıçlı B, Karaman A, Özyazıcı A, Zenciroğlu A, Okumuş N
Turk J Pediatr 2017;59(2):217-220. doi: 10.24953/turkjped.2017.02.019. PMID: 29276880
A new syndrome with prenatally diagnosed thoracoschisis, hiatal hernia and extremities' agenesis: case report.
Biri A, Korucuoğlu U, Turp A, Karaoğuz M, Himmetoğlu O, Balci S
Genet Couns 2006;17(2):161-5. PMID: 16970033
The confused identity of Cantrell's pentad: ectopia cordis is related either to thoracoschisis or to a diaphragmatic hernia with an omphalocele.
Davies BR, Duran M
Pediatr Pathol Mol Med 2003 Sep-Oct;22(5):383-90. PMID: 14692189
Thoracoschisis associated with diaphragmatic hernia in a 31-week-old stillbirth.
Derbent M, Balci S
Turk J Pediatr 2001 Jul-Sep;43(3):269-71. PMID: 11592524
Prenatal diagnosis of limb-body wall complex.
Negishi H, Yaegashi M, Kato EH, Yamada H, Okuyama K, Fujimoto S
J Reprod Med 1998 Aug;43(8):659-64. PMID: 9749415

Therapy

Disorganization is a completely dominant gain-of-function mouse mutation causing sporadic developmental defects.
Crosby JL, Varnum DS, Washburn LL, Nadeau JH
Mech Dev 1992 May;37(3):121-6. doi: 10.1016/0925-4773(92)90074-t. PMID: 1498039

Prognosis

Isolated Thoracoschisis with Rib Agenesis and Liver Herniation: A Case Report.
Masden TB, Taela A, da Rocha M, Moores DC, Radulescu A
Am J Case Rep 2019 Dec 21;20:1915-1919. doi: 10.12659/AJCR.919125. PMID: 31862868Free PMC Article
Isolated thoracoschisis: Case report.
Ardıçlı B, Karaman A, Özyazıcı A, Zenciroğlu A, Okumuş N
Turk J Pediatr 2017;59(2):217-220. doi: 10.24953/turkjped.2017.02.019. PMID: 29276880
A new syndrome with prenatally diagnosed thoracoschisis, hiatal hernia and extremities' agenesis: case report.
Biri A, Korucuoğlu U, Turp A, Karaoğuz M, Himmetoğlu O, Balci S
Genet Couns 2006;17(2):161-5. PMID: 16970033
Disorganization is a completely dominant gain-of-function mouse mutation causing sporadic developmental defects.
Crosby JL, Varnum DS, Washburn LL, Nadeau JH
Mech Dev 1992 May;37(3):121-6. doi: 10.1016/0925-4773(92)90074-t. PMID: 1498039

Clinical prediction guides

Disorganisation: a model for 'early amnion rupture'?
Donnai D, Winter RM
J Med Genet 1989 Jul;26(7):421-5. doi: 10.1136/jmg.26.7.421. PMID: 2746613Free PMC Article

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