Syndromes associated with holoprosencephaly

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Paul Kruszka, Maximilian Muenke

Abstract

Holoprosencephaly (HPE) is partial or complete failure of the forebrain to divide into hemispheres and can be an isolated finding or associated with a syndrome. Most cases of HPE are associated with a syndrome and roughly 40%-60% of fetuses with HPE have trisomy 13 which is the most common etiology of HPE. Other syndromes associated with HPE include additional aneuploidies like trisomy 18 and single gene disorders such as Smith-Lemli-Opitz syndrome. There are a number of syndromes such as pseudotrisomy 13 which do not have a known molecular etiology; therefore, this review has two parts: syndromes with a molecular diagnosis and syndromes where the etiology is yet to be found. As most HPE is syndromic, this review provides a comprehensive list and description of syndromes associated with HPE that may be used as a differential diagnosis and starting point for evaluating individuals with HPE.

References

Jun 1, 1991·Jinrui idengaku zasshi. The Japanese journal of human genetics·H HamadaH Iwasaki
Jun 11, 1991·American Journal of Medical Genetics·M M Cohen, R J Gorlin
Oct 1, 1990·Teratology·N B IsadaS G Kent
Nov 1, 1990·American Journal of Medical Genetics·A E LinJ M Graham
Jan 1, 1990·Journal of Medical Genetics·H BachmanW Salahi
Mar 1, 1989·American Journal of Medical Genetics·M L Martinez-Frías
Aug 1, 1989·Clinical Genetics·B G HewittD M Maxwell
Aug 1, 1988·American Journal of Medical Genetics·M UriosteM L Martinez-Frias
Aug 1, 1988·American Journal of Medical Genetics·C J EpsteinM Golabi
Apr 1, 1987·Clinical Genetics·V R KleinC D Edman
Jul 1, 1994·Clinical Dysmorphology·M Thomas, D Donnai
Feb 1, 1993·Journal of Pain and Symptom Management·G D Solomon
Feb 1, 1994·Journal of Medical Genetics·F FahmiR G Hutcheon
Dec 1, 1993·American Journal of Medical Genetics·G CameraM M Cohen
Sep 20, 2001·American Journal of Medical Genetics·M J NowaczykF D Porter
Mar 23, 2002·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Pascale MarcorellesAnne-Lise Delezoide
Mar 26, 2003·Nature Genetics·Michael K CooperPhilip A Beachy
Oct 29, 2003·Proceedings of the National Academy of Sciences of the United States of America·Erich RoesslerMaximilian Muenke
Nov 8, 2003·Neuroradiology·P A CarusoM B Irons
Mar 22, 2005·American Journal of Medical Genetics. Part a·Joseph R SiebertRaj P Kapur
Apr 22, 2005·Human Molecular Genetics·Lisa MeeLeena Peltonen
Feb 24, 2006·Archives of Gynecology and Obstetrics·Edward Araujo JúniorSebastião Marques Zanforlin Filho
Mar 29, 2006·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·Csaba PappZoltan Papp
Apr 15, 2006·Development·Elaine E StormJohn L R Rubenstein
Feb 6, 2007·Orphanet Journal of Rare Diseases·Christèle DubourgVéronique David
Apr 19, 2007·Fetal and Pediatric Pathology·Ona Faye-PetersenDebra S Heller
May 30, 2007·Pediatrics International : Official Journal of the Japan Pediatric Society·Hsiang-Yu LinWai-Tao Chan
Jul 3, 2007·American Journal of Medical Genetics. Part a·Hui-Fang Hsu, Jia-Woei Hou
Sep 6, 2007·Clinical Dysmorphology·Marie-France PortnoïMuriel Houang
Dec 14, 2007·Fetal and Pediatric Pathology·Annette ZimpferElisabeth Bruder
Feb 21, 2008·Orphanet Journal of Rare Diseases·Catherine Turleau
Jul 24, 2008·Journal of Neuropathology and Experimental Neurology·Anders PaetauRiitta Herva
Nov 22, 2008·European Journal of Medical Genetics·Chloé QuélinLaurent Pasquier
Oct 31, 2009·American Journal of Medical Genetics. Part a·Sriparna BasuB K Das
Nov 26, 2009·American Journal of Medical Genetics. Part a·Ariana KariminejadMohamad Hasan Kariminejad

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Citations

May 18, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Paul KruszkaMaximilian Muenke
Jul 25, 2019·Brain : a Journal of Neurology·Paul KruszkaMaximilian Muenke
Dec 18, 2019·American Journal of Medical Genetics. Part a·Tara DalyOlaf Bodamer
Jan 20, 2020·Prenatal Diagnosis·Sara H El-DessoukyGhada M H Abdel-Salam
Oct 4, 2020·Journal of Veterinary Internal Medicine·Laura BarnardStarr Cameron
Sep 6, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Tommy HuMaximilian Muenke
Sep 6, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Karin WeissMax Muenke
Jun 20, 2019·Journal of Perinatology : Official Journal of the California Perinatal Association·Monica S ArroyoCharu Venkatesan
Jun 10, 2020·Environmental Health : a Global Access Science Source·Yonit A AddissieMaximilian Muenke
Oct 29, 2020·Birth Defects Research·Yonit A AddissiePaul Kruszka
Feb 3, 2021·Proceedings of the National Academy of Sciences of the United States of America·Kostadin PetrovAdrian Salic
Apr 7, 2021·Journal of Medical Genetics·Ichrak DrissiGeoff Woods

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