Holoprosencephaly: Multimedia

References

1. Cohen HL, Sivit CJ, eds. Holoprosencephaly. Fetal and Pediatric Ultrasound: A Casebook Approach. New York, NY: McGraw-Hill; 2001:12-6.

2. Muenke M, Beachy PA. Holoprosencephaly. In: Scriver CR, Beaudet AL, Sly WS, et al, eds. The Metabolic & Molecular Bases of Inherited Disease. 8^th ed. New York, NY: McGraw-Hill; 2001:6203-30.

3. Leoncini E, Baranello G, Orioli IM, et al. Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: Searching for population variations. Birth Defects Res A Clin Mol Teratol. Jun 19 2008;epub ahead of print. [Medline].

4. Dubourg C, Bendavid C, Pasquier L, et al. Holoprosencephaly. Orphanet J Rare Dis. Feb 2 2007;2:8. [Medline]. [Full Text].

5. Golden JA. Towards a greater understanding of the pathogenesis of holoprosencephaly. Brain Dev. Dec 1999;21(8):513-21. [Medline].

6. DeMyer W, Zeman W, Palmer CG. The face predicts the brain: diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly). Pediatrics. Aug 1964;34:256-63. [Medline].

7. The Carter Centers for Brain Research in Holoprosencephaly and Related Malformations. Information about holoprosencephaly. Available at http://hpe.stanford.edu/about/. Accessed August 1, 2008.

8. Lewis AJ, Simon EM, Barkovich AJ, et al. Middle interhemispheric variant of holoprosencephaly: a distinct cliniconeuroradiologic subtype. Neurology. Dec 24 2002;59(12):1860-5. [Medline].

9. Herman-Sucharska I, Urbanik A. [MRI of fetal central nervous system malformations] [Polish]. Przegl Lek. 2007;64(11):917-22. [Medline].

10. Sonigo PC, Rypens FF, Carteret M, Delezoide AL, Brunelle FO. MR imaging of fetal cerebral anomalies. Pediatr Radiol. Apr 1998;28(4):212-22. [Medline].

11. Barkovich AJ, Maroldo TV. Magnetic resonance imaging of normal and abnormal brain development. Top Magn Reson Imaging. Spring 1993;5(2):96-122. [Medline].

12. Kim MS, Jeanty P, Turner C, Benoit B. Three-dimensional sonographic evaluations of embryonic brain development. J Ultrasound Med. Jan 2008;27(1):119-24. [Medline]. [Full Text].

13. Wilson RD, Chitayat D, McGillivray BC. Fetal ultrasound abnormalities: correlation with fetal karyotype, autopsy findings, and postnatal outcome--five-year prospective study. Am J Med Genet. Nov 15 1992;44(5):586-90. [Medline].

14. McGahan JP, Nyberg DA, Mack LA. Sonography of facial features of alobar and semilobar holoprosencephaly. AJR Am J Roentgenol. Jan 1990;154(1):143-8. [Medline]. [Full Text].

15. Barr M Jr, Cohen MM Jr. Holoprosencephaly survival and performance. Am J Med Genet. Jun 25 1999;89(2):116-20. [Medline].

16. Berry SM, Gosden C, Snijders RJ, Nicolaides KH. Fetal holoprosencephaly: associated malformations and chromosomal defects. Fetal Diagn Ther. 1990;5(2):92-9. [Medline].

17. Keller K, McCune H, Williams C, Muenke M. Lobar holoprosencephaly in an infant born to a mother with classic phenylketonuria. Am J Med Genet. Nov 13 2000;95(2):187-8. [Medline].

18. Peebles DM. Holoprosencephaly. Prenat Diagn. May 1998;18(5):477-80. [Medline].

19. Roach E, Demyer W, Conneally PM, Palmer C, Merritt AD. Holoprosencephaly: birth data, benetic and demographic analyses of 30 families. Birth Defects Orig Artic Ser. 1975;11(2):294-313. [Medline].

20. Roessler E, Du YZ, Mullor JL, Casas E, et al. Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci U S A. Nov 11 2003;100(23):13424-9. [Medline]. [Full Text].

21. Warr N, Powles-Glover N, Chappell A, et al. Zic2-associated holoprosencephaly is caused by a transient defect in the organiser region during gastrulation. Hum Mol Genet. Jul 9 2008;epub ahead of print. [Medline].

Further Reading

NINDS Holoprosencephaly Information Page.
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 

Information About Holoprosencephaly.
Carter Centers for Research in Holoprosencephaly.Texas Scottish Rite Hospital P.O. Box 190567, 2222 Welborn Street, Dallas, TX

  

Keywords

holoprosencephaly, HPE, alobar holoprosencephaly, alobar HPE, lobar holoprosencephaly, lobar HPE, semilobar holoprosencephaly, semilobar HPE, arrhinencephaly, cebocephaly, cyclopia, ethmocephaly, holotelencephaly, Shh gene, Sonic Hedgehog protein, ZIC2, SIX3, TGIF, monoventricle, fused cerebral hemispheres, middle interhemispheric fusion variant, MIHF

Contributor Information and Disclosures

Author

David H Tegay, DO, FACMG, Interim Chair, Department of Medicine, Associate Professor of Medicine and Medical Genetics, New York College of Osteopathic Medicine at the New York Institute of Technology; Assistant Professor of Pediatrics, Internal Medicine and Pathology, Stony Brook University Medical Center
David H Tegay, DO, FACMG is a member of the following medical societies: American College of Medical Genetics, American College of Osteopathic Internists, American College of Physicians, American Medical Association, American Osteopathic Association, American Society of Human Genetics, and Federation of American Societies for Experimental Biology
Disclosure: Nothing to disclose.

Coauthor(s)

Harris L Cohen, MD, FACR, Vice Chairman/Associate Chairman (Research Activities), Director, Division of Body Imaging, Professor of Radiology, Stony Brook School of Medicine; Visiting Professor of Radiology, Johns Hopkins School of Medicine
Harris L Cohen, MD, FACR is a member of the following medical societies: American College of Radiology, American Institute of Ultrasound in Medicine, Association of Program Directors in Radiology, Radiological Society of North America, Society for Pediatric Radiology, and Society of Radiologists in Ultrasound
Disclosure: Nothing to disclose.

Mark Rosovsky, MD, Attending Radiologist, Advanced Radiology Associates, Bridgeport Hospital
Mark Rosovsky, MD is a member of the following medical societies: American Society of Neuroradiology and Radiological Society of North America
Disclosure: Nothing to disclose.

Medical Editor

Michael A Bruno, MD, Associate Professor, Departments of Radiology and Medicine, Pennsylvania State University College of Medicine; Director, Radiology Quality Management Services, Milton S Hershey Medical Center, Pennsylvania State University College of Medicine
Michael A Bruno, MD is a member of the following medical societies: American College of Radiology, American Roentgen Ray Society, Association of University Radiologists, Radiological Society of North America, Society of Nuclear Medicine, and Society of Skeletal Radiology
Disclosure: Nothing to disclose.

Pharmacy Editor

Bernard D Coombs, MB, ChB, PhD, Consulting Staff, Department of Specialist Rehabilitation Services, Hutt Valley District Health Board, New Zealand
Disclosure: Nothing to disclose.

Managing Editor

Marta Hernanz-Schulman, MD, FAAP, Professor, Radiology, Radiological Sciences, and Pediatrics, Director, Department of Pediatric Radiology, Radiologist-in-Chief, Director, Department of Diagnostic Imaging, Vanderbilt University Medical Center, Vanderbilt Children's Hospital
Marta Hernanz-Schulman, MD, FAAP is a member of the following medical societies: American Institute of Ultrasound in Medicine and American Roentgen Ray Society
Disclosure: Nothing to disclose.

CME Editor

Robert M Krasny, MD, Consulting Staff, Department of Radiology, The Angeles Clinic and Research Institute
Robert M Krasny, MD is a member of the following medical societies: American Roentgen Ray Society and Radiological Society of North America
Disclosure: Nothing to disclose.

Chief Editor

Lawrence M Davis, MD, Assistant Professor of Diagnostic Imaging (Clinical), Department of Diagnostic Imaging, Warren Alpert Medical School at Brown University
Lawrence M Davis, MD is a member of the following medical societies: American College of Radiology, American Roentgen Ray Society, American Society of Neuroradiology, Radiological Society of North America, and Rhode Island Medical Society
Disclosure: Nothing to disclose.