NDLI: Brainstem disconnection associated with nodular heterotopia and proatlantal arteries.

Please wait, while we are loading the content...

Year: 2017 Volume: 173

Year: 2016 Volume: 170

Year: 2016 Volume: 170A

Year: 2015 Volume: 167A

Year: 2015 Volume: 167

Year: 2014 Volume: 164A

Year: 2013 Volume: 161A

Year: 2012 Volume: 158A

Year: 2011 Volume: 155A

Year: 2010 Volume: 152A

Year: 2009 Volume: 149A

Year: 2009 Volume: 149A Issue: 12

Year: 2009 Volume: 149A Issue: 11

Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype.

Prenatal diagnosis of Down syndrome: how best to deliver the news.

Satoyoshi syndrome with unusual skeletal abnormalities and parental consanguinity.

Weismann-Netter syndrome and mental retardation: a new patient and review of the literature.

Replication of novel susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 in Estonian and Lithuanian patients.

Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria?

X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple.

Calvarial doughnut lesions and osteoporosis: a new three-generation family and review.

De novo terminal 22q12.3q13.3 duplication with pituitary hypoplasia.

Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.

Maternal attitudes toward DNA collection for gene-environment studies: a qualitative research study.

Autosomal recessive diseases among the Athabaskans of the southwestern United States: recent advances and implications for the future.

Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.

Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation.

Brainstem disconnection associated with nodular heterotopia and proatlantal arteries.

Severe hypertriglyceridemia and recurrent pancreatitis in a girl with type Ia glycogen storage disease and type III hyperlipoproteinemia.

Genital anomalies in three male siblings with Simpson-Golabi-Behmel syndrome.

A de novo direct duplication of 16q22.1 --> q23.1 in a boy with midface hypoplasia and mental retardation.

Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy.

Conversion disorder in women with the FMR1 premutation.

Parental perceived value of a diagnosis for intellectual disability (ID): a qualitative comparison of families with and without a diagnosis for their child's ID.

Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes.

A new case of syndromic craniosynostosis with cryptic 19p13.2-p13.13 deletion.

Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient.

'Essentially' pure trisomy 3q27 --> qter: further delineation of the partial trisomy 3q phenotype.

Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics.

The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome).

Three novel mutations of the IRF6 gene with one associated with an unusual feature in Van der Woude syndrome.

The genetics of sleep disorders in humans: narcolepsy, restless legs syndrome, and obstructive sleep apnea syndrome.

Genetic pioneer eager for NIH challenge. Interview by Deborah Levenson.

Mild clinical presentation in a child with prenatally diagnosed 45,X/47,XX,+18 mosaicism.

Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase A enzyme assay is essential for accurate testing.

Pure distal trisomy 2q: a rare chromosomal abnormality with recognizable phenotype.

Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndrome.

Paternal balanced reciprocal translocation t(9;22)(q34.3;q11.2) resulting in an infant with features of the 9q subtelomere and the 22q11 deletion syndromes due to 3:1 meiotic segregation and tertiary monosomy.

Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder.

Cytogenetic and molecular characterization of a partial trisomy 2p arising from inverted duplication of 2p with terminal deletion of 2pter.

Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia.

Array-based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirth.

The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15.

Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome.

Developmental disability and hypomelanosis of Ito in a female with 7.3 Mb de novo duplication of Xp11.3-p11.4 and random X inactivation.

Down syndrome (trisomy 21) with premaxillary agenesis and semilobar holoprosencephaly.

Maternal knowledge and attitudes about newborn screening for sickle cell disease and cystic fibrosis.

Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the NSD1 gene.

Psychosocial aspects of patients with Niemann-Pick disease, type B.

Year: 2009 Volume: 149A Issue: 10

Year: 2009 Volume: 149A Issue: 9

Year: 2009 Volume: 149A Issue: 8

Year: 2009 Volume: 149A Issue: 7

Year: 2009 Volume: 149A Issue: 6

Year: 2009 Volume: 149A Issue: 5

Year: 2009 Volume: 149A Issue: 4

Year: 2009 Volume: 149A Issue: 3

Year: 2009 Volume: 149A Issue: 2

Year: 2009 Volume: 149A Issue: 1

Year: 2008 Volume: 146A

Year: 2007 Volume: 143A

Year: 2006 Volume: 140

Year: 2005 Volume: 139

Year: 2005 Volume: 139A

Year: 2005 Volume: 138

Year: 2005 Volume: 138A

Year: 2005 Volume: 137A

Year: 2005 Volume: 137

Year: 2005 Volume: 136

Year: 2005 Volume: 135

Year: 2005 Volume: 134

Year: 2005 Volume: 134A

Year: 2005 Volume: 133A

Year: 2005 Volume: 132A

Year: 2004 Volume: 128A

Year: 2004 Volume: 124A

Year: 2003 Volume: 123A

Year: 2003 Volume: 121A

Year: 2003 Volume: 118A

Year: 2003 Volume: 116A

Brainstem disconnection associated with nodular heterotopia and proatlantal arteries.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Okumura, Akihisa Lee, Tsubasa Shimojima, Keiko Hisata, Ken Shoji, Hiromichi Takanashi, Jun-ichi Yamamoto, Toshiyuki Shimizu, Toshiaki Barkovich, A. James
Description	Country affiliation: Japan Author Affiliation: Okumura A ( Department of Pediatrics, Juntendo University, School of Medicine, Tokyo, Japan. okumura@juntendo.ac.jp)
Abstract	We report on a patient with brainstem disconnection associated with periventricular nodular heterotopia and bilateral proatlantal intersegmental arteries. The patient was a girl born after 37 weeks of gestation with birth weight of 1,938 g. Polyhydroamnios and lack of swallowing movement were noted on fetal ultrasonography. No spontaneous body movement or respiration was observed after birth, whereas facial movement was preserved. She had marked generalized weakness and absent deep tendon reflexes. She remains alive and hospitalized at 4 years of age but requires mechanical ventilation and feeding through a gastrostomy tube. MRI showed absence of the lower pons and the medulla oblongata associated with hypoplasia of the cerebellar vermis and hemispheres. In addition, ventriculomegaly and periventricular nodular heterotopia were observed in the cerebrum. MR angiography demonstrated the absence of vertebral arteries and presence of bilateral proatlantal intersegmental arteries arising from the external carotid arteries. Array-comparative genomic hybridization analysis did not show any genomic copy number aberrations. No mutation was found in the FLNA gene or the EN2 gene. The constellation of the malformations of our patient suggested that genes related to the development of the central nervous and vascular system may be involved in the pathogenesis of brainstem disconnection.
File Format	HTM / HTML
ISSN	15524825
Issue Number	11
Volume Number	149A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2009-11-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Brain Stem Pathology Cerebral Arteries Periventricular Nodular Heterotopia Complications Child, Preschool Female Humans Infant Infant, Newborn Magnetic Resonance Angiography Male Pregnancy Case Reports Journal Article
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

Central Library (ISO-9001:2015 Certified)
Indian Institute of Technology Kharagpur
Kharagpur, West Bengal, India | PIN - 721302

See location in the Map
03222 282435
Mail: support@ndl.gov.in

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in