Abstract
We describe two infants with features of both 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.
| Original language | English |
|---|---|
| Pages (from-to) | 187-196 |
| Number of pages | 10 |
| Journal | Clinical Dysmorphology |
| Volume | 5 |
| Issue number | 3 |
| State | Published - 1996 |
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Keywords
- asymmetry
- axial mesodermal dysplasia spectrum
- birth defects
- CHARGE association
- developmental delay
- heminostril
- Oculo-auriculo-vertebral spectrum
- plagiocephaly
- torticollis
ASJC Scopus subject areas
- Genetics(clinical)
- Pediatrics, Perinatology, and Child Health
- Anatomy
Cite this
Oculo-auriculo-vertebral spectrum and the CHARGE association : Clinical evidence for a common pathogenetic mechanism. / Van Meter, T. D.; Weaver, David.
In: Clinical Dysmorphology, Vol. 5, No. 3, 1996, p. 187-196.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Oculo-auriculo-vertebral spectrum and the CHARGE association
T2 - Clinical evidence for a common pathogenetic mechanism
AU - Van Meter, T. D.
AU - Weaver, David
PY - 1996
Y1 - 1996
N2 - We describe two infants with features of both 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.
AB - We describe two infants with features of both 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.
KW - asymmetry
KW - axial mesodermal dysplasia spectrum
KW - birth defects
KW - CHARGE association
KW - developmental delay
KW - heminostril
KW - Oculo-auriculo-vertebral spectrum
KW - plagiocephaly
KW - torticollis
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M3 - Article
C2 - 8818446
AN - SCOPUS:0029814260
VL - 5
SP - 187
EP - 196
JO - Clinical Dysmorphology
JF - Clinical Dysmorphology
SN - 0962-8827
IS - 3
ER -