Axial mesodermal dysplasia sequence: autopsy findings.
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.
Merchant
Saumil N
SN
Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston, USA.
Naimi
Timothy S
TS
Khan
Aayesha
A
Nadol
Joseph B
JB
Holmes
Lewis B
LB
D000015:Abnormalities, Multiple; D000328:Adult; D001344:Autopsy; D001848:Bone Diseases, Developmental / Q000473:pathology; D001842:Bone and Bones / Q000002:abnormalities; D004424:Ear Canal / Q000002:abnormalities; D005146:Facial Asymmetry / Q000473:pathology; D005260:Female; D006801:Humans; D008648:Mesoderm / Q000473:pathology*; D010641:Phenotype; D011247:Pregnancy