625 results match your criteria Holoprosencephaly Imaging


Digynic triploidy in a fetus presenting with semilobar holoprosencephaly.

Taiwan J Obstet Gynecol 2018 Dec;57(6):881-884

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

Objective: We present digynic triploidy in a fetus with semilobar holoprosencephaly (HPE).

Case Report: A 32-year-old, gravid 1, para 0, woman underwent prenatal ultrasound examination at 12 weeks of gestation, and the ultrasound showed relative macrocephaly, a small non-cystic placenta, and a fetus with absent nasal bone and semilobar HPE. The pregnancy was terminated subsequently, and a 50-g fetus was delivered with a relatively enlarged head and premaxillary agenesis. Read More

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http://dx.doi.org/10.1016/j.tjog.2018.11.001DOI Listing
December 2018
1 Read

mutation affects ER homeostasis, causing neurological syndrome.

J Med Genet 2018 Nov 21. Epub 2018 Nov 21.

The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.

Background: Consanguineous kindred presented with an autosomal recessive syndrome of intrauterine growth retardation, marked developmental delay, spastic quadriplegia with profound contractures, pseudobulbar palsy with recurrent aspirations, epilepsy, dysmorphism, neurosensory deafness and optic nerve atrophy with no eye fixation. Affected individuals died by the age of 4. Brain MRI demonstrated microcephaly, semilobar holoprosencephaly and agenesis of corpus callosum. Read More

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http://dx.doi.org/10.1136/jmedgenet-2018-105503DOI Listing
November 2018
6 Reads

Presence of Probst Bundles Indicate White Matter Remodeling in a Dog With Corpus Callosum Hypoplasia and Dysplasia.

Front Vet Sci 2018 22;5:260. Epub 2018 Oct 22.

Neurology Department, Clinic of Small Animal Surgery, Vetsuisse-Faculty Zurich, Zurich, Switzerland.

Corpus callosum abnormalities (CCA) rarely occur in dogs and are related to hypo/adypsic hypernatremia and seizures. Hypoplasia and dysplasia of the corpus callosum (CC) with concomitant lobar holoprosencephaly is the most common variant. It is currently uncertain using conventional MRI if canine CCA reflects the failure of commissural fibers to develop or the failure of the commissural fibers to cross hemispheres. Read More

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http://dx.doi.org/10.3389/fvets.2018.00260DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6204354PMC
October 2018
1 Read

MRI of lobar holoprosencephaly in a cat with hypodipsic hypernatraemia.

JFMS Open Rep 2018 Jul-Dec;4(2):2055116918801602. Epub 2018 Sep 20.

Veterinary Medical Center, Obihiro University of Agriculture and Veterinary Medicine, Obihiro, Hokkaido, Japan.

Case Summary: A 2-year-old neutered female domestic shorthair cat presented with a history of hypodipsia, recurrent hypernatraemia, pelvic limb ataxia and tremor. The serum arginine vasopressin level was low for the serum osmolality. MRI of the brain revealed a failure of separation of the cerebrum, which manifested as absence of the rostral part of the corpus callosum, fornix and septum pellucidum, thus resulting in a single fused ventricle. Read More

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http://dx.doi.org/10.1177/2055116918801602DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6149025PMC
September 2018
4 Reads

Holoprosencephaly from conception to adulthood.

Am J Med Genet C Semin Med Genet 2018 Jun;178(2):122-127

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

Holoprosencephaly (HPE) consists of a spectrum of malformations related to incomplete separation of the prosencephalon. There is a wide clinical variability depending on the HPE subtype seen on imaging. Early postnatal lethality is common, however a significant fraction of newborns diagnosed with HPE will survive into childhood and even adulthood. Read More

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http://dx.doi.org/10.1002/ajmg.c.31624DOI Listing

Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre- and postnatal diagnostic testing in Germany.

Am J Med Genet C Semin Med Genet 2018 Jun;178(2):198-205

Center for Human Genetics Regensburg, Regensburg, Germany.

Holoprosencephaly (HPE) has been defined as a distinct clinical entity with characteristic facial gestalt, which may-or may not-be associated with the true brain malformation observed postmortem in autopsy or in pre- or postnatal imaging. Affected families mainly show autosomal dominant inheritance with markedly reduced penetrance and extremely broad clinical variability even between mutation carriers within the same families. We here present advances in prenatal imaging over the last years, increasing the proportion of individuals with HPE identified prenatally including milder HPE forms and more frequently allowing to detect more severe forms already in early gestation. Read More

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http://dx.doi.org/10.1002/ajmg.c.31625DOI Listing
June 2018
3 Reads

First-Trimester Diagnosis of Agnathia-Otocephaly Complex: A Series of 4 Cases and Review of the Literature.

J Ultrasound Med 2019 Mar 31;38(3):805-809. Epub 2018 Aug 31.

Fetal Imaging Unit, FETALMED-Maternal-Fetal Diagnostic Center, Santiago, Chile.

First-trimester ultrasound findings in 4 fetuses with agnathia-otocephaly complex are described. In addition, information from 3 cases reported in the literature was also reviewed, for a total of 7 cases analyzed. All 7 fetuses presented with agnathia and 6 with ventrocaudal displacement of the ears (melotia/synotia). Read More

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http://dx.doi.org/10.1002/jum.14759DOI Listing
March 2019
19 Reads
1.532 Impact Factor

Alobar holoprosencephaly associated with a rare chromosomal abnormality: Case report and literature review.

Medicine (Baltimore) 2018 Jul;97(29):e11521

Department of Obstetrics, Gynecology and Neonatology, Carol Davila University of Medicine and Pharmacy, Sf Ioan Emergency Hospital, Bucharest, Romania.

Rationale: Holoprosencephaly is a structural malformation of the brain that results from the complete or incomplete noncleavage of the forebrain of the embryo into 2 hemispheres. We report a severe case of alobar holoprosencephaly diagnosed at 38 weeks, associated with cebocephaly, microcephaly, and craniosynostosis.

Patient Concern: The main knowledge added by this case is the late ultrasound diagnosis and chromosomal analysis that revealed a very rare abnormality (45X/46,XX/47,XX) with mosaicism at chromosome 18. Read More

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http://dx.doi.org/10.1097/MD.0000000000011521DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6086508PMC
July 2018
60 Reads
5.723 Impact Factor

A Requirement for Zic2 in the Regulation of Nodal Expression Underlies the Establishment of Left-Sided Identity.

Sci Rep 2018 Jul 11;8(1):10439. Epub 2018 Jul 11.

Department of Cardiovascular Medicine, BHF Centre of Research Excellence, University of Oxford, Roosevelt Drive, Headington, Oxford, OX3 7BN, United Kingdom.

ZIC2 mutation is known to cause holoprosencephaly (HPE). A subset of ZIC2 HPE probands harbour cardiovascular and visceral anomalies suggestive of laterality defects. 3D-imaging of novel mouse Zic2 mutants uncovers, in addition to HPE, laterality defects in lungs, heart, vasculature and viscera. Read More

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http://dx.doi.org/10.1038/s41598-018-28714-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6041270PMC
July 2018
9 Reads

Management Strategies for Hydrocephalus in Alobar Holoprosencephaly: A Case Report and Discussion.

Pediatr Neurosurg 2018 14;53(5):337-341. Epub 2018 Jun 14.

Division of Neonatal and Developmental Medicine, Department of Pediatrics, School of Medicine, Adiyaman University, Adiyaman, Turkey.

Holoprosencephaly is a rare congenital malformation resulting from an impaired midline division of the prosencephalon into distinct cerebral hemispheres. Hydrocephalus is a frequent problem among the few survivors with alobar holoprosencephaly (aHPE), its most severe form. The literature about neurosurgical management of hydrocephalus in this condition is limited and dispersed, and there are still some points that need to be resolved. Read More

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http://dx.doi.org/10.1159/000489856DOI Listing
December 2018

Prenatal diagnosis of holoprosencephaly.

Am J Med Genet C Semin Med Genet 2018 Jun 17;178(2):206-213. Epub 2018 May 17.

Division of Radiology, Children's National Health System, Washington, DC.

Holoprosencephaly is a spectrum of congenital defects of forebrain development characterized by incomplete separation of the cerebral hemispheres. In vivo diagnosis can be established with prenatal brain imaging and disease severity correlates with extent of abnormally developed brain tissue. Advances in magnetic resonance imaging (MRI) over the past 25 years and their application to the fetus have enabled diagnosis of holoprosencephaly in utero. Read More

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http://dx.doi.org/10.1002/ajmg.c.31618DOI Listing

[Alobar holoprosencephaly associated with diabetes insipidus and hypothyroidism in a 10-month old infant].

Pan Afr Med J 2017 1;28:193. Epub 2017 Nov 1.

Service de Pédiatrie, UFR des Sciences de la Santé, Université Gaston Berger de Saint-Louis, Sénégal.

Holoprosencephaly (HPE) is a serious brain malformation due to a failure of medial forebrain cleavage. This is an abnormality which is more often associated with craniofacial malformations, psychomotor development delay, diabetes insipidus and variable endocrine disorders. It is due to different causes including chromosomal abnormalities (trisomy 13, 18)and polymalformative syndromes (CHARGE Syndrome). Read More

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http://dx.doi.org/10.11604/pamj.2017.28.193.11288DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5871248PMC
April 2018
8 Reads

"Twig-like" cerebral vessels are not pathognomonic for ACTA A2 mutations: A case report.

Interv Neuroradiol 2018 Aug 28;24(4):463-468. Epub 2018 Mar 28.

3 Toronto Western Hospital & University Health Network, University of Toronto, Toronto, Canada.

ACTA2 mutations are recently described genetically defined abnormalities of blood vessels in various organs of the body with specific abnormalities in cerebral vessels in the form of straightening of all cerebral arteries ("twig-like" pattern), stenosis/occlusions, proximal dilatation, and absent "moyamoya" type of collaterals. We describe a one-and-a half year-old girl child who presented with mild motor developmental delay and on neuroimaging showed septo-preoptic holoprosencephaly, diffuse radial polymicrogyria, and pontine hypoplasia along with magnetic resonance angiographic features suggestive of ACTA2 mutation type of cerebral vessels. However, genetic studies revealed no evidence of ACTA2 mutation, indicating that the "twig-like" pattern may not only be a pathognomonic feature of ACTA2 mutations. Read More

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http://dx.doi.org/10.1177/1591019918765239DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6050896PMC
August 2018
34 Reads

First and second trimester screening for fetal structural anomalies.

Semin Fetal Neonatal Med 2018 04 9;23(2):102-111. Epub 2017 Dec 9.

Department of Obstetrics and Gynaecology, University of Melbourne, Heidelberg, Victoria, Australia; Department of Perinatal Medicine, Mercy Hospital for Women, Heidelberg, Victoria, Australia; Public Health Genetics Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia. Electronic address:

Fetal structural anomalies are found in up to 3% of all pregnancies and ultrasound-based screening has been an integral part of routine prenatal care for decades. The prenatal detection of fetal anomalies allows for optimal perinatal management, providing expectant parents with opportunities for additional imaging, genetic testing, and the provision of information regarding prognosis and management options. Approximately one-half of all major structural anomalies can now be detected in the first trimester, including acrania/anencephaly, abdominal wall defects, holoprosencephaly and cystic hygromata. Read More

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http://dx.doi.org/10.1016/j.siny.2017.11.005DOI Listing
April 2018
16 Reads

"Minimal" holoprosencephaly in a 14q deletion syndrome patient.

Am J Med Genet A 2017 Dec;173(12):3216-3220

Institute of Medical Genetics, Catholic University School of Medicine, Rome, Italy.

We report on a patient with terminal deletion of the long arm of chromosome 14 displaying brain interhemispheric fusion limited to the midline anterior frontal cortex associated with hypoplastic corpus callosum and incomplete rotation of the left hippocampus in a clinical setting of motor and intellectual disability with poor language, and social behavior abnormalities with aggressiveness. Some possible correlations between clinical signs and symptoms and various aspects of the complex brain malformation are briefly discussed and compared with other known abnormalities of chromosome 14. The different neuropathology of the most common forms and the new forms of holoprosencephaly recently described is also discussed and leads us to suggest classifying the interhemispheric fusion of this case as a "minimal" form of holoprosencephaly. Read More

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http://dx.doi.org/10.1002/ajmg.a.38378DOI Listing
December 2017
4 Reads

In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.

Genet Med 2018 01 22;20(1):14-23. Epub 2017 Jun 22.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

PurposeWith improved medical care, some individuals with holoprosencephaly (HPE) are surviving into adulthood. We investigated the clinical manifestations of adolescents and adults with HPE and explored the underlying molecular causes.MethodsParticipants included 20 subjects 15 years of age and older. Read More

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http://dx.doi.org/10.1038/gim.2017.68DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763157PMC
January 2018
35 Reads

A Practical Approach to Supratentorial Brain Malformations: What Radiologists Should Know.

Radiol Clin North Am 2017 Jul;55(4):609-627

Department of Radiology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA.

For general radiologists, congenital brain malformations pose substantial challenges in terms of recognition, description, and classification. This review describes a practical approach to imaging and classifying the most common supratentorial brain malformations. It begins with a discussion of embryology and optimal imaging technique and then summarizes distinguishing imaging features for several major categories of cerebral malformation, including holoprosencephaly, gray matter heterotopia, lissencephaly/pachygyria, focal cortical dysplasia, polymicrogyria, and cobblestone malformation. Read More

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http://dx.doi.org/10.1016/j.rcl.2017.02.005DOI Listing
July 2017
4 Reads

A Retrospective Study of Cytogenetic Results From Amniotic Fluid in 5328 Fetuses With Abnormal Obstetric Sonographic Findings.

J Ultrasound Med 2017 Sep 19;36(9):1809-1817. Epub 2017 May 19.

Shanghai Ji Ai Genetics & IVF Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, China.

Objectives: The purpose of this study was to evaluate the diagnostic utility of karyotype analysis of amniotic fluid for fetuses with abnormal sonographic findings and to determine the detection rates of abnormal karyotypes.

Methods: We conducted a retrospective study of 5328 fetuses with abnormal sonographic findings in the first or second trimester enrolled from October 1998 and September 2015. Cytogenetic results from amniotic fluid were obtained in all of these pregnancies. Read More

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http://dx.doi.org/10.1002/jum.14215DOI Listing
September 2017
16 Reads

Multisystem Involvement in a Patient with a Mutation: Clinical and Imaging Findings.

J Pediatr Genet 2017 Jun 14;6(2):103-106. Epub 2016 Sep 14.

Departamento de Genética, Instituto de Ciências Biológicas, Universidade Federal de Goias, Goiania, Goiás, Brazil.

In this article, we report on a Brazilian female patient born to consanguineous parents and presenting with alobar holoprosencephaly, severe eye involvement, and unusual skin hyperpigmented lesions. She was found to have a mutation (c.2240T > C; p. Read More

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http://dx.doi.org/10.1055/s-0036-1588028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5423795PMC
June 2017
9 Reads

Multichannel visual evoked potentials in the assessment of visual pathways in children with marked brain abnormalities.

J AAPOS 2017 02 9;21(1):52-56. Epub 2017 Jan 9.

Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children, London, United Kingdom. Electronic address:

Purpose: To demonstrate how multichannel visual evoked potentials (VEPs) can provide quantitative measures of visual function in children with marked cortical anatomy abnormalities.

Methods: Four children with marked brain pathology (2 holoprosencephaly, 2 giant interhemispheric cysts with hydrocephalus) underwent pattern reversal and flash VEP recordings from 16 equally distributed electrodes. Voltage maps of the major VEP components were constructed, and their distributions were compared to the magnetic resonance imaging (MRI) findings. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10918531173001
Publisher Site
http://dx.doi.org/10.1016/j.jaapos.2016.10.003DOI Listing
February 2017
7 Reads

Cyclopia and proboscis - the extreme end of holoprosencephaly.

Rom J Morphol Embryol 2017 ;58(4):1555-1559

2nd Obstetrics and Gynecology Department, "Iuliu Hatieganu" University of Medicine and Pharmacy, Cluj-Napoca, Romania;

Holoprosencephaly (HPE), a major congenital abnormality in brain development is characterized by the absence or incomplete cleavage of prosencephalon into separate hemispheres, with cyclopia as the extreme manifestation of HPE, presenting as a failure of embryonic prosencephalon to properly divide the orbits of the eye in two cavities. We report the case of a 15-year-old pregnant patient, who delivered a 34-week living fetus with alobar HPE, cyclopia and proboscis. The patient did not have any routine scans during pregnancy; her first obstetrical exam was performed at 29 weeks of gestation (WG), when a prenatal ultrasound found a fetus with alobar HPE, cyclopia, proboscis, polydactyly and single umbilical artery. Read More

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September 2018
3 Reads

Semilobar holoprosencephaly in a 12-month-old baby boy born to a primigravida patient with type 1 diabetes mellitus: a case report.

J Med Case Rep 2016 Dec 20;10(1):358. Epub 2016 Dec 20.

Department of Pediatric Cardiology, Jakaya Kikwete Cardiac Institute, PO Box 65141, Dar es Salaam, Tanzania.

Background: Holoprosencephaly is a rare spectrum of cephalic disorders resulting from a failure or incomplete division of the embryonic forebrain into distinct cerebral hemispheres. It is the most common brain malformation with an incidence of 1:250 during embryogenesis; however, owing to the associated high rates of spontaneous abortion the incidence is 1:16,000 among live deliveries. Pathogenesis of holoprosencephaly is complex and heterogeneous involving genetic abnormalities, teratogenic exposures, and syndromic associations. Read More

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http://jmedicalcasereports.biomedcentral.com/articles/10.118
Publisher Site
http://dx.doi.org/10.1186/s13256-016-1141-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5175312PMC
December 2016
66 Reads

: a literature review and report of five new cases.

Quant Imaging Med Surg 2016 Oct;6(5):525-534

Department of Medical and Surgical Sciences and Advanced Technologies "G.F. Ingrassia", Section of Radiology, University of Catania, Catania, Italy.

Background: is a skin abnormality consisting in a combination of congenital hyper- and hypopigmented skin lesions (in the form of paired macules, patches or streaks) in close proximity to each other in a background of normal skin. It is currently regarded as a twin-spotting (mosaic) phenomenon and today is clear that not all cases of cutis tricolor represent one single entity. This phenomenon has been reported so far either: (I) as an purely cutaneous trait; (II) as a part of a complex malformation phenotype (, RHS) including distinct facial features, eye (cataract), skeletal (skull and vertebral defects, and long bones dysplasia), nervous system (corpus callosum, cerebellar and white matter anomalies, cavum vergae and holoprosencephaly) and systemic abnormalities; (III) as a distinct type with multiple, disseminated smaller skin macules (); and (IV) in association with other skin disturbances [e. Read More

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http://dx.doi.org/10.21037/qims.2016.10.14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5130568PMC
October 2016
24 Reads

Case 236: Middle Interhemispheric Variant of Holoprosencephaly.

Radiology 2016 Dec;281(3):969-974

From the Division of Neuroradiology (N.Y., O.R.I., I.I.), Section of Pediatric Neuroradiology, Division of Pediatric Radiology (A.P., T.A.H.), The Russell H. Morgan Department of Radiology and Radiologic Science, and Phelps Center for Cerebral Palsy and Neurodevelopmental Medicine, Kennedy Krieger Institute (A.H.H.), The Johns Hopkins University School of Medicine, 600 N Wolfe St, Phipps B-100, Baltimore, MD 21287.

History A 13-year-old girl presented for evaluation and further management of spastic diplegia cerebral palsy. Absence of the corpus callosum was noted at screening prenatal head ultrasonography. She was born at full term via spontaneous vaginal delivery. Read More

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http://dx.doi.org/10.1148/radiol.2016150503DOI Listing
December 2016
5 Reads

Early Detection of Cleft Lip by Three-Dimensional Transvaginal Ultrasound in Niche Mode in a Fetus With Trisomy 18 Diagnosed by Celocentesis.

Cleft Palate Craniofac J 2016 11 27;53(6):745-748. Epub 2015 Oct 27.

Transabdominal ultrasound examination carried out at 11.3 weeks' gestation suggested the diagnosis of holoprosencephaly (HPE). Transvaginal three-dimensional (3D) scan performed using the niche-mode technique enabled diagnosis of HPE, hypotelorism, and cleft lip (CL). Read More

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http://dx.doi.org/10.1597/15-006DOI Listing
November 2016
3 Reads

Ameloblastoma during pregnancy: a case report.

J Med Case Rep 2016 Sep 6;10(1):244. Epub 2016 Sep 6.

Dentistry Care, Sobradinho Regional Hospital, Sobradinho, Brasilia, Brazil.

Background: Ameloblastomas are rarely found in pregnant women, with only two cases reported in the scientific literature. We report the first case of ameloblastoma in a pregnant woman in Brazil.

Case Presentation: A 27-year-old white woman, 12-weeks pregnant, presented with a large mass in her right posterior mandible. Read More

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http://dx.doi.org/10.1186/s13256-016-1025-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011833PMC
September 2016
4 Reads

Telencephalic Flexure and Malformations of the Lateral Cerebral (Sylvian) Fissure.

Pediatr Neurol 2016 10 10;63:23-38. Epub 2016 May 10.

Department of Paediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada; Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.

After sagittal division of the prosencephalon at 4.5 weeks of gestation, the early fetal cerebral hemisphere bends or rotates posteroventrally from seven weeks of gestation. The posterior pole of the telencephalon thus becomes not the occipital but the temporal lobe as the telencephalic flexure forms the operculum and finally the lateral cerebral or Sylvian fissure. Read More

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.05.005DOI Listing
October 2016
10 Reads

Impact of holoprosencephaly, exomphalos, megacystis and increased nuchal translucency on first-trimester screening for chromosomal abnormalities.

Ultrasound Obstet Gynecol 2017 Jul 23;50(1):45-48. Epub 2017 Apr 23.

Harris Birthright Research Centre for Fetal Medicine, Fetal Medicine Research Institute, King's College Hospital, London, UK.

Objectives: To examine the prevalence of alobar holoprosencephaly, exomphalos, megacystis and nuchal translucency thickness (NT) ≥ 3.5 mm, the incidence and types of chromosomal abnormalities associated with these conditions and their overall impact on the rate of invasive testing and performance of screening at 11-14 weeks.

Methods: This was a prospective screening study for trisomies 21, 18 and 13 by the first-trimester combined test at three maternity units in England. Read More

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http://dx.doi.org/10.1002/uog.17286DOI Listing
July 2017
2 Reads

Adult with Middle Interhemispheric Variant of Holoprosencephaly: Neuropsychological, Clinical, and Radiological Findings.

Arch Clin Neuropsychol 2016 Aug 26;31(5):472-9. Epub 2016 May 26.

Division of Cognitive and Neuropsychology, Institute of Behavioural Sciences, University of Helsinki, Helsinki, Finland.

Objective: The middle interhemispheric variant of holoprosencephaly (MIHV) is a mild, rare variant of holoprosencephaly. Only a few cases of children with MIHV have been reported. Here we report in detail an adult case. Read More

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http://dx.doi.org/10.1093/arclin/acw026DOI Listing
August 2016
11 Reads

The middle interhemispheric variant of holoprosencephaly: magnetic resonance and diffusion tensor imaging findings.

Br J Radiol 2016 Jul 19;89(1063):20160115. Epub 2016 Apr 19.

Department of Radiology, Faculty of Medicine, Near East University, Lefkoşa, North Cyprus, Turkey.

Objective: The middle interhemispheric (MIH) variant of holoprosencephaly (HPE) is the incomplete separation of midline cerebral hemispheres with the absence of callosal body. We aimed to describe the additional knowledge of diffusion tensor imaging (DTI) over conventional MRI in the evaluation of patients with MIH variant of HPE.

Methods: Conventional MRI and DTI data of five patients were retrospectively evaluated. Read More

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http://dx.doi.org/10.1259/bjr.20160115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5257324PMC
July 2016
4 Reads
1.533 Impact Factor

Vesico-amniotic shunting for lower urinary tract obstruction in a fetus with VACTERL association.

Congenit Anom (Kyoto) 2016 Sep;56(5):237-9

Department of Obstetrics and Gynecology, Iwate Medical University School of Medicine, Morioka, Japan.

Newborn cases of VACTERL association with lower urinary tract obstruction (LUTO) are rare and there have been no reports on those patients undergoing fetal therapy in English literature. We successfully performed vesico-amniotic shunting in a fetus having LUTO caused by abnormality of the external genitalia at 16 weeks' gestation. Although fetal karyotype was normal 46XY, follow-up fetal ultrasound examinations revealed ventriculomegaly in the brain, a small stomach and a right multicystic dysplastic kidney. Read More

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http://dx.doi.org/10.1111/cga.12166DOI Listing
September 2016
5 Reads

Long-term survival of full trisomy 13 in a 14 year old male: a case report.

Eur Rev Med Pharmacol Sci 2016 Mar;20(5):919-22

Department of Pediatrics, Dokkyo Medical University School of Medicine, Dokkyo, Japan.

Long term survival for the cases of trisomy 13 into over a first decade is very rare. We reported here the case of a 14-year-old male karyotype with full type of trisomy 13. In this clinical phenomenon, the case had typical facial, finger and limb anomalies for trisomy 13. Read More

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March 2016
1 Read

Primary Abbe Flap for Median Cleft Lip Deformity: New Trends on an Old Concept.

J Craniofac Surg 2016 Mar;27(2):480-3

*Center for Craniofacial Disorders, Children's Healthcare of Atlanta at Scottish Rite, Atlanta, GA†Advocate Children's Hospital, Park Ridge, IL.

Objective: The authors present our experience using primary Abbe flaps for median cleft lip.

Methods: The records of 9 patients who underwent primary Abbe flaps were reviewed for indications, operative details, and complications. Flap design is discussed, including the "W" method to facilitate columellar reconstruction. Read More

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http://dx.doi.org/10.1097/SCS.0000000000002420DOI Listing
March 2016
4 Reads
0.680 Impact Factor

Etiological and clinical characteristics of central diabetes insipidus in children: a single center experience.

Int J Pediatr Endocrinol 2016 11;2016. Epub 2016 Feb 11.

Division of Pediatric Endocrinology, University of North Carolina at Chapel Hill, Campus Box #7039, Medical School Wing E, Chapel Hill, NC 27599 USA.

Background: Central diabetes insipidus (CDI) results from a number of conditions affecting the hypothalamic-neurohypophyseal system to cause vasopressin deficiency. Diagnosis of CDI is challenging, and clinical data and guidelines for management are lacking. We aim to characterize clinical and radiological characteristics of a cohort of pediatric patients with CDI. Read More

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http://dx.doi.org/10.1186/s13633-016-0021-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750251PMC
February 2016
15 Reads

Holoprosencephaly: antenatal and postnatal diagnosis and outcome.

Childs Nerv Syst 2016 May 15;32(5):801-9. Epub 2016 Jan 15.

Department of Neurosurgery, Temple St. Children's University Hospital, Dublin, Ireland.

Objectives: The objectives of this study are to ascertain the clinical outcome and overall survival of holoprosencephaly (HPE) patients diagnosed antenatally and postnatally, to determine the accuracy of antenatal diagnosis and to determine the role of neurosurgical intervention in HPE.

Design: This is a retrospective review over a 10-year period.

Patients: Sixty-three patients were included in the study, 45 were diagnosed by antenatal radiological imaging and 18 were diagnosed by postnatal radiological imaging. Read More

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http://dx.doi.org/10.1007/s00381-016-3015-4DOI Listing
May 2016
12 Reads
1.163 Impact Factor

Sonographic detection of central nervous system defects in the first trimester of pregnancy.

Prenat Diagn 2016 Mar 15;36(3):266-73. Epub 2016 Feb 15.

Department of Development and Regeneration, Faculty of Medicine, KU Leuven, Leuven, Belgium.

The fetal central nervous system can already be examined in the first trimester of pregnancy. Acrania, alobar holoprosencephaly, cephaloceles, and spina bifida can confidently be diagnosed at that stage and should actively be looked for in every fetus undergoing first-trimester ultrasound. For some other conditions, such as vermian anomalies and agenesis of the corpus callosum, markers have been identified, but the diagnosis can only be confirmed in the second trimester of gestation. Read More

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http://doi.wiley.com/10.1002/pd.4770
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http://dx.doi.org/10.1002/pd.4770DOI Listing
March 2016
2 Reads

Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome.

Am J Med Genet A 2016 Mar 5;170(3):754-9. Epub 2016 Jan 5.

Clinical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

Steinfeld syndrome (MIM #184705) was first reported in 1982. It is characterised by holoprosencephaly and limb defects, however other anomalies may also be present. Following the initial description, three further cases have been reported in the literature. Read More

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http://doi.wiley.com/10.1002/ajmg.a.37511
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http://dx.doi.org/10.1002/ajmg.a.37511DOI Listing
March 2016
4 Reads

Triploidy: Variation of Phenotype.

Am J Clin Pathol 2016 Jan;145(1):86-95

From the Medical Genetics Unit, MassGeneral Hospital for Children, Harvard Medical School, Boston, MA Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.

Objectives: Triploidy (69, XXX; 69, XXY; 69, XYY) accounts for 1% of conceptions, but the affected fetus often does not survive past the first trimester. Fetal development in triploidy is rare. A consecutive series was used to describe the fetal and placental phenotypes and compare them with previous publications. Read More

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http://dx.doi.org/10.1093/ajcp/aqv012DOI Listing
January 2016
9 Reads

[Morphologic and tomodensitometric comparative analysis of two cyclotocephalic newborns].

Morphologie 2016 Mar 3;100(328):7-11. Epub 2015 Dec 3.

Service public de Wallonie, Muséum régional des sciences naturelles, 7, rue des Gaillers, 7000 Mons, Belgique.

Two specimens of cyclotocephalic newborns, coming from museum collections, have been the subject of a comparative morphologic analysis. This one comprised an external examination and a CT scan exploration. If the craniofacial features were similar, one had a quasi-normal brain, while the second specimen displayed alobar holoprosencephaly. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S12860115150024
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http://dx.doi.org/10.1016/j.morpho.2015.09.050DOI Listing
March 2016
5 Reads

Ethical and legal dilemmas around termination of pregnancy for severe fetal anomalies: A review of two African neonates presenting with ventriculomegaly and holoprosencephaly.

Authors:
S C Chima F Mamdoo

Niger J Clin Pract 2015 12;18 Suppl:S31-9

Programme of Bio and Research Ethics and Medical Law, School of Nursing and Public Health and Nelson R Mandela School of Medicine, College of Health Sciences, University of KwaZulu-Natal, Durban, South Africa.

Termination of pregnancy (TOP) or feticide for severe fetal anomalies is ethically and morally challenging and maybe considered illegal in countries with restrictive abortion laws. While diagnostic modalities such as fetal ultrasound, magnetic resonance imaging, and genetic screening have improved prenatal diagnosis, these technologies remain scarce in many African countries making diagnosis and counseling regarding TOP difficult. Ethical dilemmas such as women's autonomy rights may conflict with fetus' right to personhood, and doctor's moral obligations to society. Read More

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http://dx.doi.org/10.4103/1119-3077.170820DOI Listing
December 2015
6 Reads

Agenesis of the corpus callosum. An autopsy study in fetuses.

Virchows Arch 2016 Feb 16;468(2):219-30. Epub 2015 Nov 16.

Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

Agenesis of the corpus callosum is currently diagnosed prenatally with ultrasound and MRI. While the diagnostic aspects of callosal defects are widely addressed, anatomo-histological data from fetal autopsies are sparse. Callosal defects were present in 50 fetal autopsies. Read More

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http://dx.doi.org/10.1007/s00428-015-1872-yDOI Listing
February 2016
4 Reads

In Utero MR Imaging of Fetal Holoprosencephaly: A Structured Approach to Diagnosis and Classification.

AJNR Am J Neuroradiol 2016 Mar 12;37(3):536-43. Epub 2015 Nov 12.

From the Academic Unit of Radiology, University of Sheffield, Sheffield, UK.

Background And Purpose: Holoprosencephaly is a rare developmental brain abnormality with a range of severity. We describe our experience in diagnosing holoprosencephaly in the fetus with in utero MR imaging. We hypothesized that including in utero MR imaging in the diagnostic pathway will improve the detection of holoprosencephaly compared with ultrasonography and allow better assessment of the severity. Read More

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http://www.ajnr.org/content/early/2015/11/12/ajnr.A4572.full
Web Search
http://www.ajnr.org/cgi/doi/10.3174/ajnr.A4572
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http://dx.doi.org/10.3174/ajnr.A4572DOI Listing
March 2016
2 Reads

Brain size regulations by cbp haploinsufficiency evaluated by in-vivo MRI based volumetry.

Sci Rep 2015 Nov 6;5:16256. Epub 2015 Nov 6.

Center for Biomaterials and Tissue Engineering, Universitat Politècnica de València, Valencia, Spain.

The Rubinstein-Taybi Syndrome (RSTS) is a congenital disease that affects brain development causing severe cognitive deficits. In most cases the disease is associated with dominant mutations in the gene encoding the CREB binding protein (CBP). In this work, we present the first quantitative analysis of brain abnormalities in a mouse model of RSTS using magnetic resonance imaging (MRI) and two novel self-developed automated algorithms for image volumetric analysis. Read More

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http://dx.doi.org/10.1038/srep16256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4635362PMC
November 2015
5 Reads

Absence of the lateral and third ventricles associated with holoprosencephaly.

Anat Cell Biol 2015 Sep 22;48(3):222-4. Epub 2015 Sep 22.

Department of Genetics, Ondokuz Mayis University Faculty of Medicine, Samsun, Turkey.

We describe a 6-month-old boy suffering from motor and mental retardation. All radiological features were suggestive of holoprosencephaly with no identifiable lateral or third ventricles and fusion of the thalami. Read More

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http://dx.doi.org/10.5115/acb.2015.48.3.222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4582167PMC
September 2015
31 Reads

The human brain and face: mechanisms of cranial, neurological and facial development revealed through malformations of holoprosencephaly, cyclopia and aberrations in chromosome 18.

J Anat 2015 Sep;227(3):255-67

Clinical Brain Disorders Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.

The study of inborn genetic errors can lend insight into mechanisms of normal human development and congenital malformations. Here, we present the first detailed comparison of cranial and neuro pathology in two exceedingly rare human individuals with cyclopia and alobar holoprosencephaly (HPE) in the presence and absence of aberrant chromosome 18 (aCh18). The aCh18 fetus contained one normal Ch18 and one with a pseudo-isodicentric duplication of chromosome 18q and partial deletion of 18p from 18p11. Read More

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http://dx.doi.org/10.1111/joa.12343DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4560560PMC
September 2015
6 Reads

Prenatal evaluation of atelencephaly.

Pediatr Radiol 2016 Jan 11;46(1):145-7. Epub 2015 Aug 11.

Division of Fetal and Transitional Medicine, Children's National Medical Center, Washington, DC, USA.

Atelencephaly is a rare lethal congenital brain malformation characterized by underdevelopment of the prosencephalon and is often accompanied by the facial features seen in some cases of holoprosencephaly, such as cyclopia. We report a case of atelencephaly in the fetus with characteristic ultrasound findings. In addition, we report the findings on fetal MRI, which have not been previously described in the literature. Read More

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http://dx.doi.org/10.1007/s00247-015-3440-7DOI Listing
January 2016
9 Reads

A Single-Center Experience of CNS Anomalies or Neural Tube Defects in Patients With Jarcho-Levin Syndrome.

J Child Neurol 2016 Mar 3;31(4):415-20. Epub 2015 Aug 3.

Department of Pediatrics, Division of Neonatology, Yuzuncu Yil University School of Medicine, Van, Turkey.

Jarcho-Levin syndrome (JLS) is a genetic disorder characterized by distinct malformations of the ribs and vertebrae, and/or other associated abnormalities such as neural tube defect, Arnold-Chiari malformation, renal and urinary abnormalities, hydrocephalus, congenital cardiac abnormalities, and extremity malformations. The study included 12 cases at 37-42 weeks of gestation and diagnosed to have had Jarcho-Levin syndrome, Arnold-Chiari malformation, and meningmyelocele. All cases of Jarcho-Levin syndrome had Arnold-Chiari type 2 malformation; there was corpus callosum dysgenesis in 6, lumbosacral meningmyelocele in 6, lumbal meningmyelocele in 3, thoracal meningmyelocele in 3, and holoprosencephaly in 1 of the cases. Read More

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http://journals.sagepub.com/doi/10.1177/0883073815596614
Publisher Site
http://dx.doi.org/10.1177/0883073815596614DOI Listing
March 2016
17 Reads

Subcortical heterotopia appearing as huge midline mass in the newborn brain.

Childs Nerv Syst 2016 Feb 1;32(2):377-80. Epub 2015 Aug 1.

Department of Pediatrics, Sapporo Medical University School of Medicine, Chuo-ku, South-1, West-16, Sapporo, 060-8543, Japan.

Introduction: We report the case of a 2-year-old boy who showed a huge midline mass in the brain at prenatal assessment.

Case Report: After birth, magnetic resonance imaging (MRI) revealed a conglomerate mass with an infolded microgyrus at the midline, which was suspected as a midline brain-in-brain malformation. MRI also showed incomplete cleavage of his frontal cortex and thalamus, consistent with lobar holoprosencephaly. Read More

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http://dx.doi.org/10.1007/s00381-015-2841-0DOI Listing
February 2016
9 Reads

Distal 3p duplication and terminal 7q deletion associated with nuchal edema and cyclopia in a fetus and a review of the literature.

Taiwan J Obstet Gynecol 2015 Jun;54(3):297-302

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

Objective: To present perinatal detection of distal 3p duplication and terminal 7q deletion associated with nuchal edema and cyclopia in a fetus, and to review the literature.

Materials And Methods: A 32-year-old, G9P0, woman who had experienced eight spontaneous abortions was found to have fetal nuchal edema, alobar holoprosencephaly, and cyclopia by prenatal ultrasound at 15 weeks of gestation. The pregnancy was subsequently terminated, and a malformed fetus was delivered with cyclopia. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10284559150008
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http://dx.doi.org/10.1016/j.tjog.2015.04.001DOI Listing
June 2015
7 Reads