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Oculo-auriculo-vertebral spectrum and the CHARGE association: clinical evidence for a common pathogenetic mechanism
1Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202-5251, USA.
Insights
This study highlights overlapping features between oculo-auriculo-vertebral spectrum (OAVS) and CHARGE association (CA) in infants. Researchers suggest a shared pathogenetic mechanism, possibly within the axial mesodermal spectrum, may underlie both conditions.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatrics
Background:
- The oculo-auriculo-vertebral spectrum (OAVS) and CHARGE association (CA) are distinct congenital disorders.
- Understanding the etiological basis and phenotypic overlap is crucial for accurate diagnosis and management.
Observation:
- Two infants presented with severe manifestations combining features of both OAVS and CA.
- Key features included facial asymmetry, mandibular hypoplasia, ear abnormalities, hearing impairment, microphthalmia, heart defects, and developmental delay.
- Additional anomalies such as torticollis, plagiocephaly, and heminostril were noted, extending beyond typical presentations of OAVS or CA.
Findings:
- A significant overlap in clinical features between OAVS and CA was observed.
- The findings suggest a potential shared underlying pathogenetic mechanism for these conditions.
- The axial mesodermal spectrum and dysblastogenetic processes are proposed as unifying etiological factors.
Implications:
- This research suggests OAVS and CA may not be entirely separate entities but could represent variations of a single underlying process.
- The proposed mechanism may explain atypical features observed in complex cases.
- Further research into the axial mesodermal spectrum could provide new insights into the pathogenesis of these and related developmental disorders.
Abstract:
We describe two infants with features of both the oculo-auriculo-vertebral spectrum (OAVS) and the CHARGE association (CA). Both patients are more severely affected than the typical patient with the OAVS. Each has facial asymmetry, mandibular hypoplasia, ear abnormalities, hearing impairment, microphthalmia, heart defects, and developmental delay. They also have features that are not characteristic of either OAVS or CA including torticollis, plagiocephaly, and heminostril. Based on the findings of these patients and other reported in the literature, there appears to be a significant overlap of features between OAVS and CA, and we suggest that these conditions in fact may be produced by the same pathogenetic mechanism. One such mechanism to explain the overlap of these disorders is that both conditions are part of the axial mesodermal spectrum, and represent a dysblastogenetic process. This mechanism may also explain the presence of some of the additional features not normally seen in OAVs and CA but seen in these two infants.