Complete cleft sternum and congenital heart disease: Review of the literature

Shalak, Lina; Kaddoura, Imad L.; Obeid, Mounir; Hashem, Hussein Lafta; Haidar, Rachid; Bitar, Fadi

doi:10.1046/j.1442-200x.2002.t01-1-01545.x

Cited by 13 publications

(11 citation statements)

References 5 publications

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“…Indeed, the Prx1 gene, which is well known for its strong expression in the limbs, is also expressed in sternal rudiments but not in the dorsal ribs. Even though sternal malformations are sometimes observed in human genetic disorders and mutant mouse models (Wurst et al, 1994;Storm and Kingsley, 1996;Katagiri et al, 1998;Shalak et al, 2002), the complete absence of the sternum is a relatively rare occurrence (Shalak et al, 2002). Moreover, the genetic pathway regulating sternal development remains obscure.…”

Section: Molecular Dissection Of Sternal Morphogenesismentioning

confidence: 99%

Runx1 and Runx2 cooperate during sternal morphogenesis

et al. 2010

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SUMMARYChondrocyte differentiation is strictly regulated by various transcription factors, including Runx2 and Runx3; however, the physiological role of Runx1 in chondrocyte differentiation remains unknown. To examine the role of Runx1, we generated mesenchymal-cell-specific and chondrocyte-specific Runx1-deficient mice [Prx1 Runx1 f/f mice and a1(II) Runx1 f/f mice, respectively] to circumvent the embryonic lethality of Runx1-deficient mice. We then mated these mice with Runx2 mutant mice to obtain mesenchymal-cell-specific or chondrocyte-specific Runx1; Runx2 double-mutant mice [Prx1 DKO mice and a1(II) DKO mice, respectively]. Prx1 Runx1 f/f mice displayed a delay in sternal development and Prx1 DKO mice completely lacked a sternum. By contrast, a1(II) Runx1 f/f mice and a1(II) DKO mice did not show any abnormal sternal morphogenesis or chondrocyte differentiation. Notably, Runx1, Runx2 and the Prx1-Cre transgene were co-expressed specifically in the sternum, which explains the observation that the abnormalities were limited to the sternum. Histologically, mesenchymal cells condensed normally in the prospective sternum of Prx1 DKO mice; however, commitment to the chondrocyte lineage, which follows mesenchymal condensation, was significantly impaired. In situ hybridization analyses demonstrated that the expression of a1(II) collagen (Col2a1 -Mouse Genome Informatics), Sox5 and Sox6 in the prospective sternum of Prx1 DKO mice was severely attenuated, whereas Sox9 expression was unchanged. Molecular analyses revealed that Runx1 and Runx2 induce the expression of Sox5 and Sox6, which leads to the induction of a1(II) collagen expression via the direct regulation of promoter activity. Collectively, these results show that Runx1 and Runx2 cooperatively regulate sternal morphogenesis and the commitment of mesenchymal cells to become chondrocytes through the induction of Sox5 and Sox6.

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Section: Molecular Dissection Of Sternal Morphogenesismentioning

confidence: 99%

Runx1 and Runx2 cooperate during sternal morphogenesis

et al. 2010

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“…Inferior sternal clefts may be isolated lesions or seen as part of complex anomalies such as the pentalogy of Cantrell2. Association with congenital heart disease is reported as 8% when there is a complete cleft sternum6. When the defect involves the lower sternum and adjacent abdominal wall or diaphragm as a form of pentalogy of Cantrell, association with congenital heart disease is common2, 7.…”

Section: Discussionmentioning

confidence: 99%

“…The defective chest wall shows indrawing on inspiration. Symptoms vary according to the severity of geometric distortion of the cardiovascular system and lung volume changes as well as to the associated defects1, 2, 4–8. Infants may develop symptoms of right ventricular overload, cyanosis, dyspnea and arrythmias.…”

Section: Discussionmentioning

confidence: 99%

Prenatal ultrasonography and neonatal imaging of complete cleft sternum: a case report

Twomey

Moore

Ein

et al. 2005

Ultrasound in Obstet & Gyne

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“…The sternal cleft is more common in females and in association with other anomalies like posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, eye anomalies and supraumbilical midline raphe better known as PHACES syndrome (OMIM 606519) [ 1 ]. Surgical correction of a sternal cleft should be preferred during infancy for functional (respiratory impairment and potentially dangerous injuries to the mediastinal organs) and mechanical (more elasticity and thoracic compliance) reasons [ 2 ]. Chest wall reconstruction represented a complex problem in the last decades due to the difficulty to choose the best surgical approach for closing the defect without compromising the stability and the following evolution of the thoracic wall.…”

Section: Introductionmentioning

confidence: 99%

Sternal reconstruction by extracellular matrix: a rare case of phaces syndrome

et al. 2016

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AbstractCongenital defects of the sternum are rare and due to a failure of midline development and fusion of the sternal bones. Surgical correction of a sternal cleft should be preferred during infancy for functional reasons. Chest wall reconstruction represented a complex problem in the last decades.We report our successful outcome of sternal reconstruction in a rare case of PHACES syndrome, in which the patient was submitted to reconstruction of the sternum and complete closure of the thoracic defect by the employ of an extracellular matrix XCM Biologic tissue matrix.We promote the use of extracellular matrix in surgical reconstruction of chest defects for its maneuverability, plasticity, tolerability and the possibility of growing with the children’s chest getting a good compliance and optimal cosmetic results.

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Complete cleft sternum and congenital heart disease: Review of the literature

Abstract: Key wordscomplete cleft sternum, congenital heart disease, double outlet right ventricle, ventricular septal defect.

Cited by 13 publications

References 5 publications

Runx1 and Runx2 cooperate during sternal morphogenesis

Runx1 and Runx2 cooperate during sternal morphogenesis

Prenatal ultrasonography and neonatal imaging of complete cleft sternum: a case report

Sternal reconstruction by extracellular matrix: a rare case of phaces syndrome

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