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Axial mesodermal dysplasia sequence: autopsy findings
Saumil N Merchant1, Timothy S Naimi, Aayesha Khan
1Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston, USA.
Clinical Dysmorphology
|May 7, 2004
Abstract:
We describe an infant with the phenotype of the "axial mesodermal dysplasia spectrum" who had the oculo-auriculo-vertebral sequence and caudal dysgenesis. Postmortem studies identified anomalies of the middle ear ossicles, and muscles, in association with microtia and atresia of the external auditory canals, but no cerebral abnormalities.

