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Postaxial acrofacial dysostosis syndrome with vertebral segmentation defects
Clinical Dysmorphology
|April 1, 1994
Summary
A fetus presented with severe mandibulofacial dysostosis, limb defects, and vertebral anomalies. These findings suggest a potential new syndrome: postaxial acrofacial dysostosis.
Area of Science:
- Medical Genetics
- Developmental Biology
- Clinical Dysmorphology
Background:
- Mandibulofacial dysostosis (MFD) encompasses a spectrum of craniofacial developmental anomalies.
- Postaxial limb defects and vertebral segmentation anomalies are less commonly associated with MFD.
- Identifying distinct syndromic patterns aids in diagnosis and understanding developmental pathways.