Palatal anteversion as part of the iniencephaly malformation sequence.
We describe a fetus with hydrocephalus and the cranial and cervical findings of iniencephaly (enlarged foramen magnum, fusion of the upper cervical vertebrae, and a retroflexed, webbed neck) who had an unusual palatal abnormality ("palatal anteversion"). The posterio-lateral border of the secondary palate arose at the oral commissures, giving the palate an appearance of being folded so that the uvula was directed anteriorly. There were no clefts. Histologic sections of the junction of the secondary palate with the inner aspect of the oral commissures revealed continuity of the epithelial basement membranes and no unusual disarray of collagen fibers. This indicates that the unusual palatal orientation occurred during palatal formation and was not due to adhesion formation later in development. Failure of rotation of the palatal shelves prior to fusion and merging could account for the observed findings.
D000015:Abnormalities, Multiple / Q000473:pathology*; D000328:Adult; D002574:Cervical Vertebrae / Q000002:abnormalities*; D005260:Female; D005539:Foramen Magnum / Q000002:abnormalities*; D006801:Humans; D006849:Hydrocephalus / Q000473:pathology; D009333:Neck / Q000002:abnormalities; D010159:Palate / Q000002:abnormalities*; D011247:Pregnancy; D013577:Syndrome