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oai:hama-med.repo.nii.ac.jp:00001999 2023-06-20T17:24:26Z 1:11

An autopsy case of cyclopia with 13 trisomy with special reference to histological abnormalities of the eyeball Kawasaki, Hideya Baba, Satoshi Kosugi, Isao Tsutsui, Yoshihiro Miura, Katsutoshi Omori, Hajime Tokunaga, Naoki Kobayashi, Takao © 2000 日本先天異常学会 本文データは学協会の許諾に基づきCiNiiから複製したものである cyclopia holoprosencephaly 13trisomy synophthalmia We present an autopsy case of cyclopia and alobar holoprosencephaly and polydactyly with 13 trisomy. A 27 year-old Japanese female at the 27th gestational week was diagnosed as hydramnios and the fetus showed hydrocephalus and intrauterine growth retardation. The fetus was suspected to be cyclopic and holoprosencephalic by ultrasonograph and MRI images. The mother delivered a stillborn male baby at the 30th week of gestation. At autopsy, the baby showed true cyclopia having one eyeball and two irides in a single ocular opening, and one proboscis. On histological analysis of the eye, there was marked dysplastic hyperplasia of the retina with rosettes, focal degeneration of the retina with calcification, and prominent proliferation of glial cells beneath the hyperplastic retina. Multiple glomerular structures in the cerebral cortex and aplasia of the corticospinal tract were observed. In the spinal cord, a few neurons with pyknosis were observed in the ventral horn. Although no mutation was detected in the Sonic hedgehog in the present case, we reviewed recent studies concerning the molecular mechanisms of cyclopia and holoprosencephaly. 日本先天異常学会 2000-06 eng journal article VoR http://hdl.handle.net/10271/2037 https://hama-med.repo.nii.ac.jp/records/1999 110002785627 10.1111/j.1741-4520.2000.tb00917.x 09143505 Congenital anomalies 40 2 123 130 https://hama-med.repo.nii.ac.jp/record/1999/files/CongAnomal-40-123.pdf application/pdf 4.5 MB 2018-08-27