Phenotypic variability in human embryonic holoprosencephaly in the Kyoto Collection

Birth Defects Research. Part A, Clinical and Molecular Teratology
Shigehito YamadaKohei Shiota

Abstract

Holoprosencephaly (HPE) is one of the most common developmental disorders of the brain associated with specific craniofacial dysmorphogenesis. Although numerous postnatal cases have been reported, early phases of its pathogenesis are not well understood. We examined over 200 cases of HPE human embryos both grossly and histologically, and studied their phenotypic variability and stage-specific characteristics. Among over 44,000 human embryos in the Kyoto Collection of Human Embryos, 221 embryos have been diagnosed as HPE. Their developmental stages ranged from Carnegie stage (CS) 13 to CS 23. They were examined grossly and were also serially sectioned for detailed histological analysis. HPE embryos after CS 18 were classified into complete (true) cyclopia, synophthalmia (partially fused eyes in a single eye fissure), closely apposed separate eyes (possible forerunners of ethmocephaly and cebocephaly), and milder HPE with median cleft lip (premaxillary agenesis). At CS 13-17, when facial morphogenesis is not completed, HPE embryos had some facial characteristics that are specific to these stages and different from those in older HPE embryos. The midline structures of the brain, including the pituitary gland, were lacking or serio...Continue Reading

References

Dec 30, 1977·Documenta Ophthalmologica. Advances in Ophthalmology·E TorczynskiJ A Madewell
Oct 1, 1990·Teratology·J P SouzaJ B Beckwith
Jan 1, 1988·Anatomy and Embryology·H IkedaH Niizuma
Jan 1, 1986·Journal of Child Neurology·R W Leech, R M Shuman
Feb 1, 1987·Brain : a Journal of Neurology·J A KoboriH Urich
Nov 1, 1996·Nature Genetics·E RoesslerM Muenke
Jun 4, 1999·Trends in Genetics : TIG·H Z Sheng, H Westphal
Feb 2, 2002·Nature Reviews. Neuroscience·Ariel Ruiz i AltabaNadia Dahmane
Apr 5, 2002·American Journal of Medical Genetics·M Michael Cohen, Kohei Shiota
Oct 24, 2002·American Journal of Human Genetics·Jeffrey E Ming, Maximilian Muenke
Jul 23, 2003·Developmental Biology·Jeanette HyerTakashi Mikawa
Oct 29, 2003·Proceedings of the National Academy of Sciences of the United States of America·Erich RoesslerMaximilian Muenke
Oct 2, 1908·Science·C R Stockard

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Citations

Apr 10, 2009·Clinical Dysmorphology·Benjamin D SolomonMaximilian Muenke
Dec 20, 2007·Diagnostic Pathology·Ada ChanFederico Gonzalez-Fernandez
Feb 3, 2012·Head & Face Medicine·Miho KagurashoTetsuya Takakuwa
Dec 25, 2010·Disease Models & Mechanisms·Wei ZhangRobert S Krauss
Jun 10, 2010·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Alan D Proia
Dec 21, 2013·Best Practice & Research. Clinical Obstetrics & Gynaecology·Harm-Gerd Karl Blaas
Oct 29, 2015·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Hideaki KishimotoShigehiko Suzuki
Mar 13, 2014·Clinics in Plastic Surgery·Stephanie E WatkinsArthur S Aylsworth
May 21, 2011·Seminars in Ultrasound, CT, and MR·Sangam KanekarHeather Kaneda
Sep 16, 2015·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Saki ToyodaTetsuya Takakuwa
Mar 1, 2005·Clinical Genetics·I Grinberg, K J Millen
May 26, 2007·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Shigehito YamadaKohei Shiota
Oct 30, 2007·American Journal of Medical Genetics. Part a·Kohei ShiotaMakoto Ishibashi
Dec 1, 2005·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Shigehito YamadaKohei Shiota
Mar 30, 2007·Birth Defects Research. Part A, Clinical and Molecular Teratology·Daisuke HigashiyamaKohei Shiota
Dec 8, 2006·Annals of the New York Academy of Sciences·Rengasamy PadmanabhanSarabjit Singh
Nov 14, 2006·Congenital Anomalies·Shigehito Yamada
Nov 14, 2012·Hepatology Research : the Official Journal of the Japan Society of Hepatology·Yui HamabeTetsuya Takakuwa
Oct 19, 2011·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Iêda M OrioliEduardo E Castilla
Feb 13, 2013·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Naoki ShiraishiTetsuya Takakuwa
Nov 15, 2013·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·N KaigaiT Takakuwa
Mar 21, 2016·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Saki UenoTetsuya Takakuwa
Jan 28, 2010·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Iêda M Orioli, Eduardo E Castilla
Jan 28, 2010·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Jin S Hahn, Patrick D Barnes
Jan 28, 2010·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Kohei Shiota, Shigehito Yamada
Jan 28, 2010·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Pascale Marcorelles, Annie Laquerriere
May 27, 2010·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Shigehito YamadaCecilia W Lo
Nov 19, 2014·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Aya EndoTetsuya Takakuwa
Nov 2, 2005·American Journal of Obstetrics and Gynecology·Shigehito YamadaKohei Shiota
Jan 16, 2015·Radiographics : a Review Publication of the Radiological Society of North America, Inc·Thomas C WinterPaula J Woodward
Apr 3, 2016·Congenital Anomalies·Tetsuya TakakuwaShigehito Yamada
Aug 9, 2016·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Maimi Ozeki-SatohTetsuya Takakuwa
Aug 9, 2016·Congenital Anomalies·Ririko YoshidaTetsuya Takakuwa
Mar 16, 2017·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Miho OsakaTetsuya Takakuwa
May 12, 2017·Congenital Anomalies·Yutaka YamaguchiShigehito Yamada
Jan 3, 2018·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Aoi IshikawaTetsuya Takakuwa
Jan 10, 2018·Journal of Anatomy·Sayaka TojimaShigehito Yamada
Apr 18, 2018·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Kohei Shiota
Apr 24, 2018·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Shigehito YamadaTamaki Motoki
Feb 20, 2018·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Kana FuruichiTetsuya Takakuwa
Sep 25, 2007·Expert Reviews in Molecular Medicine·Robert S Krauss
Jul 13, 2019·Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution·Paul Palmquist-GomesJuan Antonio Guadix

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Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

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