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Embryonic holoprosencephaly: pathology and phenotypic variability.
Yamada S. Yamada S. Congenit Anom (Kyoto). 2006 Dec;46(4):164-71. doi: 10.1111/j.1741-4520.2006.00123.x. Congenit Anom (Kyoto). 2006. PMID: 17096815 Review.
Over 200 cases of HPE in the Kyoto Collection of Human Embryos were observed grossly and histologically, with special emphasis on the anomalies of the brain, face and eye. The facial anomalies of HPE human embryos after Carnegie stage (CS) 18 could be classified into cyclo …
Over 200 cases of HPE in the Kyoto Collection of Human Embryos were observed grossly and histologically, with special emphasis on the …
Alobar holoprosencephaly associated with a rare chromosomal abnormality: Case report and literature review.
Ionescu CA, Calin D, Navolan D, Matei A, Dimitriu M, Herghelegiu C, Ples L. Ionescu CA, et al. Medicine (Baltimore). 2018 Jul;97(29):e11521. doi: 10.1097/MD.0000000000011521. Medicine (Baltimore). 2018. PMID: 30024536 Free PMC article. Review.
We report a severe case of alobar holoprosencephaly diagnosed at 38 weeks, associated with cebocephaly, microcephaly, and craniosynostosis. PATIENT CONCERN: The main knowledge added by this case is the late ultrasound diagnosis and chromosomal analysis that revealed a very …
We report a severe case of alobar holoprosencephaly diagnosed at 38 weeks, associated with cebocephaly, microcephaly, and craniosynos …
Musculoskeletal study of cebocephalic and cyclopic lamb heads illuminates links between normal and abnormal development, evolution and human pathologies.
Diogo R, Razmadze D, Siomava N, Douglas N, Fuentes JSM, Duerinckx A. Diogo R, et al. Sci Rep. 2019 Jan 30;9(1):991. doi: 10.1038/s41598-018-37735-9. Sci Rep. 2019. PMID: 30700788 Free PMC article.
We analyzed the head musculoskeletal system of several 'natural mutant' newborn lambs displaying various degrees of abnormality, from mild defects to cebocephaly and to cyclopia, and compared them with humans. Interestingly, muscle defects are less marked than osteological …
We analyzed the head musculoskeletal system of several 'natural mutant' newborn lambs displaying various degrees of abnormality, from mild d …
Holoprosencephaly and postaxial polydactyly with normal chromosomes. Another observation of a new malformation syndrome; a case report.
Ramaekers PR, Legius E, Verloes A, Gillerot Y, Vandenberghe K, Fryns JP. Ramaekers PR, et al. Eur J Obstet Gynecol Reprod Biol. 1990 Jul-Aug;36(1-2):161-5. doi: 10.1016/0028-2243(90)90062-6. Eur J Obstet Gynecol Reprod Biol. 1990. PMID: 2365121
A newborn boy is described with semilobar holoprosencephaly, cebocephaly with single nostril, median pseudocleft of upper lip, postaxial polydactyly, hypogenitalism, Hischsprung's disease and survival till the age of 13 weeks. ...
A newborn boy is described with semilobar holoprosencephaly, cebocephaly with single nostril, median pseudocleft of upper lip, postax …