Prenatal diagnosis and pathoanatomy of iniencephaly.
The authors discuss the diagnostic criteria of iniencephaly based on data from the literature and eleven additional, new cases. The most important differential diagnostic problems involve anencephaly with spinal retroflexion and the Klippel-Feil syndrome. Ultrasound indicated cranio-spinal alterations while amniotic fluid AFP estimation and exfoliative cytology substantiated abnormal closure of the neural tube, thus comprising helpful means for prenatal diagnosis of iniencephaly. The authors emphasize the need for median-sagittal sectioning through the spinal column for accurate evaluation of vertebral abnormalities. This, together with close observation of the occiput and the foramen magnum, helps the precise diagnosis of iniencephaly and once regularly applied will most likely result in more frequent recognition of this developmental abnormality.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D003937:Diagnosis, Differential; D006801:Humans; D009777:Occipital Bone / Q000002:abnormalities*; D011296:Prenatal Diagnosis; D014463:Ultrasonography