Related Experiment Videos
Sternal malformation/vascular dysplasia association
Insights
A rare sternal cleft malformation linked with craniofacial hemangiomata is described. This association highlights the need to screen for dangerous internal vascular lesions.
Area of Science:
- Medical Genetics
- Developmental Biology
- Vascular Malformations
Background:
- Sternal defects are uncommon congenital anomalies.
- Craniofacial vascular lesions, such as hemangiomata, can occur independently.
- The simultaneous occurrence of sternal defects and craniofacial hemangiomata is exceptionally rare.
Observation:
- This report details two patients presenting with both a sternal cleft and cutaneous, craniofacial hemangiomata.
- Internal vascular lesions were also identified in both patients, affecting the respiratory tract and viscera.
- This specific combination suggests a recognizable sternal malformation and vascular dysplasia association.
Findings:
- The pathogenesis is unclear but may involve early midline mesodermal disturbances during gestational weeks 6-9.
- Possible mechanisms include incomplete fusion of sternal bands or deficient formation of midline structures.
- Persistence and proliferation of midline angioblastic tissue may also contribute.
Implications:
- The presence of this association warrants a thorough search for potentially life-threatening internal hemangiomata.
- Early recognition is crucial for timely diagnosis and management of associated vascular anomalies.
- This finding expands the understanding of rare congenital malformation syndromes.
Abstract:
Sternal defects associated with superficial craniofacial vascular lesions are rare. We report on two additional patients with a sternal cleft and cutaneous, craniofacial hemangiomata to emphasize that this unusual combination of findings represents a recognizable sternal malformation/vascular dysplasia association. In addition, internal vascular lesions were also identified in these individuals, in one instance involving the upper respiratory tract and in the other the viscera. Although the pathogenesis of these findings is unclear, an early disturbance affecting midline mesodermal structures leading to lack of complete fusion of lateral sternal bands and overlying cutaneous tissue, or deficient formation of a proposed medioventral unpaired structure which may be involved in the formation of the sternum, and persistence and proliferation of midline angioblastic tissue may be possible mechanisms during the sixth to ninth gestational weeks. To date, all but one of the 15 known cases have been sporadic and no teratogen has been identified as a cause for these clinical manifestations. The presence of this association should signal the need to search for potentially life-threatening internal hemangiomata.