I read with interest the case reports by Stewart et al. [19931 and Martinez-Frias and Gomar 119941 concerning axial mesodermal dysplasia spectrum. Shortly afterwards I had the opportunity to see a 2-year-old boy with manifestations of the oculo-auriculo-vertebral complex and caudal "regression" anom
Axial mesodermal dysplasia spectrum
โ Scribed by Stewart, Fiona J. ;Nevin, Norman C. ;Brown, Stephen
- Book ID
- 102702152
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 840 KB
- Volume
- 45
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
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We were interested in the report by Stewart et al. 119931 of a male infant with the oculoauriculovertebral "dysplasia" (OAVS) spectrum and the caudal "regression" sequence. The report reviews similar previously published cases, all of which have been sporadic. Such cases support the concept of an ax
## Abstract We describe a male infant born to consanguineous healthy parents with multiple congenital anomalies of the skeleton and internal organs. His phenotype displays an overlap between VACTERL and hemifacial microsomia (oculoโauriculoโvertebral spectrum/OAV). In addition, striking asymmetry o