Cases reported "Anencephaly"

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1/3. 3D-reconstruction of craniofacial structures of a human anencephalic fetus. Case report.

    It was the purpose of this study to investigate the craniofacial bones, cartilages and major blood vessels of a human anencephalic fetus and to describe the malformations of these structures accompanying this developmental disruption. The head of a 16 week old human fetus with anencephaly was serially sectioned and the craniofacial bones, cartilages and major blood vessels were traced and reconstructed by 3D-computer technology. The sphenoidal, temporal and occipital bones showed severe malformations, whereas the bones of the facial cranium were normally developed. Both internal carotid arteries ended within the cerebro-vascular area with no further branches. The vertebral arteries also ended within the cerebro-vascular area. No arterial circle of willis was developed. The notochord terminated normally in the sphenoid body. The observations indicate that the possible reason for this malformation was non-closure of the anterior neuropore of the neural tube. The normal termination of the notochord suggests that it had no influence on the pathogenesis of this malformation. The malformations of the temporal and occipital bones are contradictory to the hypothesis of Marin-Padilla (1991) that anencephaly is caused by a maldevelopment of the sphenoidal bone.
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2/3. Monocephalus diprosopus, a rare form of conjoined twins, and associated congenital anomalies.

    Craniofacial duplication (diprosopus) is a rare form of conjoined twins. A case of monocephalus diprosopus with anencephaly, cervicothoracolumbar rachischisis, and duplication of the respiratory tract and upper gastrointestinal tract is reported. The cardiovascular system remained single but the heart showed transposition of the great vessels. We present this case due to its rarity, and compare our pathologic findings with those already reported.
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3/3. Bilateral optic nerve aplasia associated with hydranencephaly.

    A case of bilateral optic nerve aplasia (ONA) associated with hydranencephaly and other multiple congenital anomalies in an infant is reported. Its occurrence in an offspring of a consanguineous union may implicate an autosomal recessive transmission. A brief review of ocular embryology is presented in relation to the possible pathogenesis of bilateral ONA. Bilateral ONA is most likely to be due to failure of the retinal ganglion cells to develop, consequently, the optic disc and nerve, and the retinal blood vessels are absent. Bilateral ONA is rare, and is associated with major CNS anomalies, and with other multiple, often severe congenital malformations. Bilateral ONA appears to be a distinct entity, independent from its unilateral counterpart and can be adequately diagnosed on clinical grounds.
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