About 820 results

ALLMedicine™ Holoprosencephaly Center

Research & Reviews  316 results

Imaging of Congenital Malformations of the Brain.
Clinics in Perinatology; Fenton LZ

Sep 17th, 2022 - Brain formation is a continuous and complicated process that is historically categorized by the timing of development. The earliest disorders of dorsal induction occur in the first month of gestation and include anencephaly and cephalocele. Disord...

Sinus pericranii associated with syntelencephaly: a case report.
BMC Neurology; Fujino S, Enokizono M et. al.

Aug 26th, 2022 - Sinus pericranii is a rare cranial venous malformation resulting in a subcutaneous mass due to abnormal communication between intracranial and subperiosteal/interperiosteal veins. To date, to the best of our knowledge, there are no reports of sinu...

Campylobacter jejuni subdural hygroma infection in a 2-year old boy: case report and a ...
BMC Infectious Diseases; Valenčak-Ignjatić I, Krajcar N et. al.

Aug 21st, 2022 - Campylobacter jejuni is a common cause of acute gastroenteritis, but central nervous system infections are rare manifestations of Campylobacter infection. Therefore, C. jejuni trauma-related subdural hygroma infection in children is poorly describ...

Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse an...
Human Molecular Genetics; Bando H, Brinkmeier ML et. al.

Aug 12th, 2022 - Congenital hypopituitarism is a genetically heterogeneous condition that is part of a spectrum disorder that can include holoprosencephaly. Heterozygous mutations in SIX3 cause variable holoprosencephaly in humans and mice. We identified two child...

Clinical spectrum of orbital and ocular abnormalities on fetal MRI.
Pediatric Radiology; Jacobs E, Whitehead MT

Jul 23rd, 2022 - Fetal magnetic resonance imaging (MRI) may reveal sonographically occult ocular abnormalities. When discovered, acquired causes and genetic associations must be sought. We aim to evaluate a fetal cohort with orbit and/or globe malformations to det...

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Clinicaltrials.gov  4 results

A Study of the Genetic Analysis of Brain Disorders

Dec 14th, 2021 - Holoprosencephaly (HPE) covers a nearly continuous spectrum of midline abnormalities ranging from unmistakable cyclopia with absence of forebrain separation to mild microforms, such a single central incisor. The objective of these studies is to id...

Retrospective Study Using Next Generation Sequencing (NGS) on Biological Samples to Improve Genetic Counseling for Patients With Previously Explored Craniofacial Midline Defects.

Dec 7th, 2021 - Holoprosencephaly, or HPE, is the most common congenital cerebral malformation in humans and the most severe of a group of pathologies related to a deficiency of the SHH signalling pathway (Sonic Hedgehog SHH-D). It is characterized by severe cere...

Clinical and Genetic Studies on Holoprosencephaly

Apr 20th, 2020 - Holoprosencephaly (HPE) is a defect of midline forebrain development that occurs soon after conception. It has a prevalence of 1 in 250 during early embryonic development, and 1 in 10,000 to 1 in 20,000 at term. In live born infants, the abnormali...

Study of the Experiences and Needs of Parents Continuing a Pregnancy Following a Prenatal Diagnosis of Holopresencephaly

Mar 4th, 2008 - Holoprosencephaly (HPE) is a condition that when found prenatally offers parents a poor but often uncertain prognosis for their baby. Parents that continue the pregnancy given this diagnosis are left to endure the remainder of the pregnancy and th...

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News  8 results

Survival Rates Vary with Congenital Anomalies

Jan 19th, 2010 - Action Points Explain to interested patients and parents that long-term survival for children born with congenital anomalies varies considerably, depending on the type of anomaly and body system affected. Survival among children with congenital an...

2nd NIH Conference on Holoprosencephaly and Early Embryonic Development

Jun 7th, 2002 - Clinical Aspects of HPE A National Study to Discover the Causes of Birth Defects Dr. Sonja Rasmussen from the National Center on Birth Defects and Developmental Disabilities at the Centers for Disease Control and Prevention in Atlanta, Georgia, sp...

2nd NIH Conference on Holoprosencephaly and Early Embryonic Development

Jun 7th, 2002 - Concluding Remarks Dr. Muenke concluded the conference by speaking on the genetic and environmental causes of HPE. He asked us to consider 2 thoughts as we began to head for home.   We generally ascribe to a multi-hit hypothesis of developmental a...

2nd NIH Conference on Holoprosencephaly and Early Embryonic Development

Jun 7th, 2002 - Introduction Springtime in Washington, DC, was the setting for the 2nd NIH Conference on Holoprosencephaly (HPE) and Early Embryonic Development organized by the National Human Genome Research Institute with support from the NIH Office of Rare Dis...

Defect Rate Drops With Reduced Use of Valproate in Australia
Michele G. Sullivan

WASHINGTON – Decreased use of valproate to manage epilepsy during pregnancy in Australia has produced a corresponding drop in fetal malformations associated with the drug, Dr. Frank Vajda said at the joint annual meeting of the American Epilepsy S.

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