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Topic: Holoprosencephaly

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	Holoprosencephaly - holoprosencephaly tom cruise
		Recent studies holoprosencephaly photographs holoprosencephaly have shown that the addition of folic acid to the diet of women of child-bearing age may significantly reduce, although not eliminate, the incidence of neural tube defects.
		Holoprosencephaly is caused by a failure of the embryo's forebrain to divide to form bilateral cerebral hemispheres (the left and right halves of the brain), causing defects in the development of the face and in brain structure and function.
		Semilobar holoprosencephaly, in which the brain's hemispheres have a slight tendency to separate, is an intermediate form of the disease.
	www.medicalgeo.com /Med-Diseases-Ho---Hy/Holoprosencephaly.html (4033 words)

	eMedicine - Holoprosencephaly : Article by David H Tegay, DO, FACMG (Site not responding. Last check: 2007-10-13)
		In alobar holoprosencephaly, the female-to-male ratio is 3:1, whereas with lobar holoprosencephaly, the ratio is 1:1.
		The falx cerebri, corpus callosum, septum pellucidum, and fornix are absent, as are the olfactory bulbs and optic tracts.
		Semilobar holoprosencephaly is detected by identifying the partial cleavage of the occipital horns and the presence of a posterior falx and a posterior portion of the corpus callosum.
	www.emedicine.com /radio/topic347.htm (3579 words)

	holoprosencephaly (Site not responding. Last check: 2007-10-13)
		Holoprosencephaly is a brain malformation that is caused by a primary defect in patterning and induction of the basal forebrain during embryogenesis, causing the brain to develop improperly and resulting in incomplete division of the cerebral hemispheres (Stashinko 2004).
		Holoprosencephaly occurs as a result of failure of the forebrain (prosencephalon) of the embryo to divide into the two cerebral hemispheres, which normally occurs by the 5th-6th week gestation.
		Investigation of the epidemiology and prenatal diagnosis of holoprosencephaly in the North of England.
	www.dshs.state.tx.us /birthdefects/risk/risk5-holoprosencephaly.shtm (1949 words)

	Holoprosencephaly Information Page: National Institute of Neurological Disorders and Stroke (NINDS)
		Holoprosencephaly is a disorder caused by the failure of the
		In less severe cases, babies are born with normal or near-normal brain development and facial deformities that may affect the eyes, nose, and upper lip.
		In some cases of lobar holoprosencephaly the baby's brain may be nearly normal.
	www.ninds.nih.gov /disorders/holoprosencephaly/holoprosencephaly.htm (446 words)

	TheFetus.net - Holoprosencephaly: alobar -Reuwen Achiron, MD, Anat Achiron, MD, PhD, Shlomo Lipitz, MD, Shlomo ...
		Holoprosencephaly is commonly seen associated with chromosomal abnormalities, especially trisomy 13 but also trisomy 18, 13q-, 18q-, and triploidy.
		The purposes of this communication are to describe the intracranial findings consistent with alobar holoprosencephaly and to emphasize the role of high frequency transvaginal ultrasonography in establishing early diagnosis at 10 weeks of gestation.
		Holoprosencephaly is a rare central nervous system malformation resulting from absent or incomplete cleavage of the forebrain (prosencephalon) into the two cerebral hemispheres and lateral ventricles.
	www.thefetus.net /page.php?id=115 (1650 words)

	Holoprosencephaly definition - Medical Dictionary definitions of popular medical terms
		Holoprosencephaly: A relatively common birth defect of the brain, which often also affects facial features, causing closely spaced eyes, small head size, and sometimes clefts of the lip and roof of the mouth.
		Holoprosencephaly is characterized by the failure of the prosencephalon (the forebrain of the embryo) to develop.
		Approximately one-half of all cases of holoprosencephaly have a chromosomal cause.
	www.medterms.com /script/main/art.asp?articlekey=15531 (559 words)

	Article : Prenatal Diagnosis of Holoprosencephaly - Pictorial Essay ; Author : RAJESH AGARWAL ; Co-Author(s) : ; Vol / ... (Site not responding. Last check: 2007-10-13)
		Holoprosencephaly (HP) results from failure of the prosencephalon to differentiate into the cerebral hemispheres and lateral ventricles between the fourth and eighth week of gestation [1],[2],[3].
		The two hemispheres are separated anteriorly and posteriorly with a certain degree of fusion of structures such as the lateral ventricles and cingulate gyrus, and absence of the cavum septum pellucidum [15].
		Holoprosencephaly and facial dysmorphia: Nosology, etiology, and pathogenesis.
	www.ijri.org /articles/archives/20001002/obstetrad01.htm (2340 words)

	TheFetus.net - Holoprosencephaly, overview-Philippe Jeanty, MD, PhD & Sandra R Silva, MD
		Holoprosencephaly is graded according to the severity of the brains anomaly as alobar, semilobar and lobar.
		In the alobar form, the ventricle is continuous, whereas in the lobar form an attempt to form occipital horns and abnormal frontal horns is present.
		Ultrasound diagnosis of quintuple nuchal cord entanglement and fetal stress-HTML
	www.thefetus.net /page.php?id=114 (873 words)

	Holoprosencephaly - WrongDiagnosis.com
		Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild mental retardation to normal.
		Holoprosencephaly is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		With a diagnosis of Holoprosencephaly, it is also important to consider whether there is an underlying condition causing Holoprosencephaly.
	www.wrongdiagnosis.com /h/holoprosencephaly/intro.htm (772 words)

	[No title]
		The malformation is of graded severity (alobar, semilobar, and lobar holoprosencephaly) with respect to both the brain and the face.
		Classification: Holoprosencephaly is not purely a failure of hemispheric cleavage.
		Semilobar holoprosencephaly: the interhemispheric fissure is present posteriorly but the frontoparietal lobes are continuous.
	moon.ouhsc.edu /kfung/JTY1/NeuroHelp/ZNG0IE02.htm (554 words)

	Holoprosencephaly
		Holoprosencephaly is a birth defect that occurs during the first few weeks of intrauterine life.
		Holoprosencephaly is a very rare disorder affecting males and females in equal numbers before birth.
		Family members of children with Holoprosencephaly should be carefully examined for mild symptoms such as a single front tooth (incisor) instead of two, and closely-set eyes (hypotelorism).
	hw.healthdialog.com /kbase/nord/nord791.htm (1413 words)

	eMedicine - Holoprosencephaly : Article Excerpt by: David H Tegay, DO, FACMG (Site not responding. Last check: 2007-10-13)
		Additional clinical manifestations include developmental delay, which roughly is correlated with the degree of holoprosencephaly; variable seizures; pituitary dysfunction; hydrocephalus; and feeding difficulties, which typically result in reduced survival.
		Active research into the pathophysiology of holoprosencephaly has revealed multiple teratogenic and genetic causes (both chromosomal and single gene), and further genetic characterization is ongoing.
		Holoprosencephaly arises from disruption of the normal induction and patterning of the rostral neural tube during early embryogenesis.
	www.emedicine.com /radio/byname/holoprosencephaly.htm (436 words)

	Holoprosencephaly
		Holoprosencephaly is a disorder caused by the failure of the prosencephalon (the forebrain of the embryo) to divide to form bilateral cerebral hemispheres, causing defects in the development of the face and in brain structure and function.
		Once called arhinencephaly, the disorder consists of a spectrum of defects or malformations of the brain and face.
		Lobar, in which there is considerable evidence of separate brain hemispheres, is the least severe form.
	healthlink.mcw.edu /article/921731126.html (357 words)

	genome.gov \| Learning About Holoprosencephaly
		Holoprosencephaly (HPE) is a relatively common birth defect of the brain, which often can also affect facial features, including closely spaced eyes, small head size, and sometimes clefts of the lip and roof of the mouth, as well as other birth defects.
		The least severe of the facial anomalies in holoprosencephaly is the median cleft lip (premaxillary agenesis).
		The most severe is cyclopia, an abnormality characterized by a single eye located in the area normally occupied by the root of the nose, and a missing nose or a proboscis (a tubular-shaped nose) located above the eye.
	www.genome.gov /12512735 (706 words)

	Clinical Study: 04-HG-0093, Clinical and Genetic Studies on Holoprosencephaly (Site not responding. Last check: 2007-10-13)
		This study will examine how holoprosencephaly (HPE) affects people, how they change over time, and what genes may be involved in the cause of the disorder.
		HPE is a defect of brain development in utero in which the forebrain fails to sufficiently divide into two hemispheres, resulting in a single-lobed brain and skull and facial malformations.
		Holoprosencephaly: birth data, benetic and demographic analyses of 30 families.
	clinicalstudies.info.nih.gov /cgi/detail.cgi?A_04-HG-0093.html (744 words)

	Article : Images- Alobar Holoprosencephaly ; Author : MK Dwivedi ; Co-Author(s) : RK Pal, S Prashant, K Singh ; Vol / ... (Site not responding. Last check: 2007-10-13)
		Key words: Holoprosencephaly, CT Holoprosencephaly is a complex intracranial abnormality characterized by absent or incomplete cleavage of the Prosencephalon (1).
		Holoprosencephalies have a heterogenous cause; chromosomal aberration is found in about one half of the cases.
		Holoprosencephaly as, an autosomal dominant inheritance is rare but certainly exists.
	www.ijri.org /articles/ARCHIVES/2003-13-3/cns295.htm (347 words)

	About Holoprosencephaly
		Holoprosencephaly (HPE) is a birth defect that occurs during the first few weeks of intrauterine life.
		HPE is a disorder in which the fetal brain does not grow forward and divide as it is supposed to during early pregnancy (incomplete cleavage of the embryonic forebrain/failure of the prosencephalon to cleave into the cerebral and lateral hemispheres).
		Several genes have been identified that play a role in holoprosencephaly.
	www.stanford.edu /group/hpe/about (658 words)

	Coexistent Holoprosencephaly and Chiari II Malformation -- Rollins et al. 20 (9): 1678 -- American Journal of ...
		MR images from a case of coexistent Chiari II malformation and holoprosencephaly that occurred in a viable infant.
		renal and cardiac anomalies, and lobar holoprosencephaly and
		Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth.
	www.ajnr.org /cgi/content/full/20/9/1678 (1900 words)

	Pediatric Pathology (Site not responding. Last check: 2007-10-13)
		The skull is opened here to reveal the "semilobar" form of holoprosencephaly, because there is a small cleft representing an attempt to separate the hemispheres.
		Holoprosencephaly is a grave condition with little or no brain function.
		Holoprosencephaly can be associated with chromosomal anomalies (such as trisomy 13), with maternal diabetes mellitus, and can be seen sporadically.
	www-medlib.med.utah.edu /WebPath/PEDHTML/PED217.html (71 words)

	Extreme variability of expression of a Sonic Hedgehog mutation: attention difficulties and holoprosencephaly -- ...
		Linkage of a human malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity.
		Holoprosencephaly due to a mutation in ZIC2, a homologue of Drosophila odd-paired.
		The mutational spectrum of the Sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
	adc.bmjjournals.com /cgi/content/full/86/4/293 (2221 words)

	Medical Dictionary: Holoprosencephaly - WrongDiagnosis.com
		Holoprosencephaly: Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage.
		Holoprosencephaly: Holoprosencephaly is listed as a type of (or associated with) the following medical conditions in our database: Congenital conditions, Brain conditions
		Holoprosencephaly: Holoprosencephaly is a disorder caused by the failure of the prosencephalon (the forebrain of the embryo) to divide to form bilateral cerebral hemispheres, causing defects in the development of the face and in brain structure and function.
	www.wrongdiagnosis.com /medical/holoprosencephaly.htm (428 words)

	Holoprosencephaly
		It is possible that the main title of the report Holoprosencephaly is not the name you expected.
		Holoprosencephaly is the failure of the prosenceplon section of the forebrain (the part of the brain in the fetus that evolves into parts of the adult brain) to develop.
		This causes defects in the development of the middle of the face and in brain structure and function.
	www.webmd.com /hw/brain_nervous_system/nord791.asp (418 words)

	Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic ...
		Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination -- Brown et al.
		Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination
		(1999) The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
	hmg.oxfordjournals.org /cgi/content/full/10/8/791 (3432 words)

	Cephalic Disorders - Types - neurologychannel
		The face and forebrain (or prosencephalon) of an embryo normally begin to develop in the 5th and 6th weeks of pregnancy.
		Lobar holoprosencephaly is marked by substantial, but still incomplete, separation of the hemispheres.
		There appears to be an increased risk for holoprosencephaly in infants of diabetic mothers, but the significance of this is not well understood.
	www.neurologychannel.com /cephalicdisorders/types.shtml (621 words)

	Targeted Disruption of Tgif, the Mouse Ortholog of a Human Holoprosencephaly Gene, Does Not Result in Holoprosencephaly ...
		Prenatal diagnosis of holoprosencephaly (HPE) in a fetus with a recombinant (18)dup(18q)inv(18)(p11.31q11.2)mat.
		Holoprosencephaly in human embryos: epidemiologic studies of 150 cases.
		Holoprosencephaly: birth data, genetic and demographic analyses of 30 families.
	mcb.asm.org /cgi/content/full/25/9/3639 (4916 words)

	genome.gov \| Talking Glossary: "holoprosencephaly"
		It may be caused by environmental or genetic factors.
		Holoprosencephaly affects between 1 in 5,000 and 1 in 10,000 live births.
		Max Muenke, of the National Human Genome Research Institute's Medical Genetics Branch, defines holoprosencephaly.
	www.genome.gov /glossary.cfm?key=holoprosencephaly (81 words)

	CAMB: Faculty: Jeffrey E. Ming, MD, PhD (Site not responding. Last check: 2007-10-13)
		We are studying holoprosencephaly, a common brain abnormality that is associated with mental retardation and seizures.
		We have previously found that mutations in components of the Sonic Hedgehog signaling pathway are associated with human holoprosencephaly.
		In addition, we are examining the biologic function of these genes and how the genetic defects present in patients lead to abnormal nervous system and craniofacial development.
	www.med.upenn.edu /camb/faculty/ggr/ming.html (377 words)

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