Brain stem and cervical cord dysraphic lesions in iniencephaly.
Iniencephaly is a rare, lethal, axial dysraphic malformation complex diagnosed on the basis of three cardinal features: deficiency of the occipital bone, cervicothoracic spinal retroflexion, and rachischisis. The majority of the patients also have various associated viscerae malformations. An iniencephalic female fetus delivered at 35 5/7 weeks of gestation revealed severe anomalies of the central nervous system and the spine: the cerebellar vermis was hypoplastic, the medulla oblongata was flattened and broadened, and the cervical canal was widely patent dorsally. The thoracolumbar spinal cord had a duplicated central canal and lacked a dorsal fissure, representing a minor degree of diastematomyelia. The cervicothoracic spine showed severe bony anomalies including aplasia and fusion of vertebral bodies.
Scherrer
C C
CC
Institute of Clinical Pathology, University of Zurich, Switzerland.
Hammer
F
F
Schinzel
A
A
Briner
J
J
D000015:Abnormalities, Multiple / Q000473:pathology; D001933:Brain Stem / Q000002:abnormalities*; D002574:Cervical Vertebrae / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009777:Occipital Bone / Q000002:abnormalities; D013116:Spinal Cord / Q000002:abnormalities*