Rhombencephalosynapsis: Fused cerebellum, confused geneticists
نویسندگان
چکیده
منابع مشابه
Partial rhombencephalosynapsis.
We describe an infant in whom partial rhombencephalosynapsis was diagnosed by using MR imaging. The anterior vermis and nodulus were normally developed, but part of the posterior vermis was deficient. There was partial fusion of the hemispheres in the inferior part of the cerebellum. Partial rhombencephalosynapsis is described for the first time, and our findings support the recent embryologic ...
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We describe two infants in whom rhombencephalosynapsis was diagnosed with MR imaging in vivo. In contrast to Dandy-Walker malformation, the vermian maldevelopment in this anomaly is characterized by an absence of the anterior vermis and a deficiency of the posterior vermis. The cerebellar hemispheres are fused. In an attempt to identify the pathogenesis of these anatomic manifestations, we ques...
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N-confused and N-fused porphyrins revealed quite unique photophysical properties arising from their perturbed pi-conjugation pathways induced by structural modifications such as confusion and fusion of pyrrole rings compared with their parent porphyrin molecules.
متن کاملRhombencephalosynapsis: CT and MRI findings.
An unusual disorder of cerebellar development, rhombencephalosynapsis is a unique entity which presents with cerebellar fusion and absence of cerebellar vermis on imaging studies, often associated with supratentorial findings. No specific clinical syndrome has been described in these patients so far, and most cases are found in infancy and childhood. MRI and its multiplanar capabilities and hig...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part C: Seminars in Medical Genetics
سال: 2018
ISSN: 1552-4868
DOI: 10.1002/ajmg.c.31666