Megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis
Identifieur interne : 001E19 ( Main/Exploration ); précédent : 001E18; suivant : 001E20Megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis
Auteurs : Ghayda M. Mirzaa [États-Unis] ; Robert L. Conway [États-Unis] ; Karen W. Gripp [États-Unis] ; Tally Lerman-Sagie [Israël] ; Dawn H. Siegel [États-Unis] ; Linda S. Devries [Pays-Bas] ; Dorit Lev [Israël] ; Nancy Kramer [États-Unis] ; Elizabeth Hopkins [États-Unis] ; John M. Graham Jr [États-Unis] ; William B. Dobyns [États-Unis]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2012-02.
English descriptors
- Teeft :
- Abnormality, American journal, Anomaly, Asymmetry, Autistic features, Birth ofcs, Body overgrowth, Bossing, Brain overgrowth, Brainstem compression, Broad range, Callosum, Capillary malformation, Capillary malformations, Cbte, Cerebellar, Cerebellar tonsillar ectopia, Cerebellar tonsils, Cohort, Complete lack, Congenita, Congenital, Connective, Connective tissue, Connective tissue dysplasia, Conway, Corpus callosum, Cortical brain malformations, Cutaneous, Cutis marmorata, Developmental abnormalities, Developmental delay, Diagnostic criteria, Digital anomalies, Distal limb anomalies, Dobyns, Dysmy, Dysplasia, Early overgrowth, Ectopia, Fossa, Frontal bossing, Garavelli, Genet, Genet part, Genetics, Grant number, Grant sponsor, Gripp, Hemangioma, Human genetics, Hydrocephalus, Hypotonia, Infantile hemangiomas, Intellectual disability, Joint hypermobility, Large cerebellum, Longitudinal, Longitudinal data, Macrocephaly, Malformation, Malformation syndrome, Marmorata, Marmorata telangiectatica congenita, Marmorata telangiectatica congenita syndrome, Mcap, Mcap patients, Mcap syndrome, Medical genetics part, Mega, Mega corpus callosum, Megacc, Megalencephaly, Mirzaa, Motor development, Mpph, Mpph patients, Mpph syndrome, Mpph syndrome patients, Mpph syndromes, Ndings, Neonatal, Neonatal hypotonia, Neuroimaging, Neuroimaging features, Obstructive vmeg, Ofcs, Original mcap, Other features, Overgrowth, Overlap group, Overlap patients, Pathway, Perisylvian, Perisylvian polymicrogyria, Polydactyly, Polymicrogyria, Postaxial, Postaxial polydactyly, Posterior fossa, Progressive cbte, Research center, Secondary features, Selective brain overgrowth, Somatic, Somatic asymmetry, Somatic overgrowth, Subcutaneous, Subcutaneous tissue, Supraventricular tachycardia, Syndactyly, Syndrome, Telangiectatica, Tissue dysplasia, Tone abnormalities, Tonsillar, Variable degrees, Vascular, Vascular abnormalities, Vascular anomalies, Vascular malformation, Vascular malformations, Vascular ring, Vascular rings, Venous, Venous aneurysms, Ventricular shunting, Vmeg.
Abstract
The macrocephaly‐capillary malformation syndrome (M‐CM), which we here propose to rename the megalencephaly‐capillary malformation syndrome (MCAP; alternatively the megalencephaly‐capillary malformation‐polymicrogyria syndrome), and the more recently described megalencephaly‐polymicrogyria‐polydactyly‐hydrocephalus syndrome (MPPH) are two megalencephaly (MEG) disorders that involve a unique constellation of physical and neuroimaging anomalies. We compare the features in 42 patients evaluated for physical and neuroimaging characteristics of MCAP and MPPH and propose a more global view of these syndromes based on classes of developmental abnormalities that include primary MEG and growth dysregulation, developmental vascular anomalies (primarily capillary malformations), distal limb anomalies (such as syndactyly and polydactyly), cortical brain malformations (most distinctively polymicrogyria, PMG), and variable connective tissue dysplasia. Based on these classes of developmental abnormalities, we propose that MCAP diagnostic criteria include progressive MEG with either vascular anomalies or syndactyly. In parallel, we propose that MPPH diagnostic criteria include progressive MEG and PMG, absence of the vascular anomalies and syndactyly characteristic of MCAP, and absence of brain heterotopia. © 2012 Wiley Periodicals, Inc.
Url:
DOI: 10.1002/ajmg.a.34402
Affiliations:
- Israël, Pays-Bas, États-Unis
- Californie, Delaware, Illinois, Michigan, Utrecht (province), Washington (État), Wisconsin
- Utrecht
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Mirzaa</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Illinois</region></placeName><wicri:cityArea>Department of Human Genetics, University of Chicago, Chicago</wicri:cityArea></affiliation><affiliation></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Illinois</region></placeName><wicri:cityArea>Correspondence address: Department of Human Genetics, University of Chicago, Chicago</wicri:cityArea></affiliation></author><author><name sortKey="Conway, Robert L" sort="Conway, Robert L" uniqKey="Conway R" first="Robert L." last="Conway">Robert L. Conway</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Michigan</region></placeName><wicri:cityArea>Division of Human Genetics, Michigan State University, Lansing</wicri:cityArea></affiliation></author><author><name sortKey="Gripp, Karen W" sort="Gripp, Karen W" uniqKey="Gripp K" first="Karen W." last="Gripp">Karen W. Gripp</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Delaware</region></placeName><wicri:cityArea>Medical Genetics, A. I. du Pont Hospital for Children, Wilmington</wicri:cityArea></affiliation></author><author><name sortKey="Lerman Agie, Tally" sort="Lerman Agie, Tally" uniqKey="Lerman Agie T" first="Tally" last="Lerman-Sagie">Tally Lerman-Sagie</name><affiliation wicri:level="1"><country xml:lang="fr">Israël</country><wicri:regionArea>Pediatric Neurology Unit, Wolfson Medical Center, Holon</wicri:regionArea><wicri:noRegion>Holon</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler School of Medicine, Tel‐Aviv University, Tel‐Aviv</wicri:regionArea><wicri:noRegion>Tel‐Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Siegel, Dawn H" sort="Siegel, Dawn H" uniqKey="Siegel D" first="Dawn H." last="Siegel">Dawn H. Siegel</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Wisconsin</region></placeName><wicri:cityArea>Department of Dermatology and Pediatrics, Medical College of Wisconsin, Milwaukee</wicri:cityArea></affiliation></author><author><name sortKey="Devries, Linda S" sort="Devries, Linda S" uniqKey="Devries L" first="Linda S." last="Devries">Linda S. Devries</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neonatology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht</wicri:regionArea><placeName><settlement type="city">Utrecht</settlement><region nuts="2" type="province">Utrecht (province)</region></placeName></affiliation></author><author><name sortKey="Lev, Dorit" sort="Lev, Dorit" uniqKey="Lev D" first="Dorit" last="Lev">Dorit Lev</name><affiliation wicri:level="1"><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler School of Medicine, Tel‐Aviv University, Tel‐Aviv</wicri:regionArea><wicri:noRegion>Tel‐Aviv</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Israël</country><wicri:regionArea>Institute of Medical Genetics, Wolfson Medical Center, Holon</wicri:regionArea><wicri:noRegion>Holon</wicri:noRegion></affiliation></author><author><name sortKey="Kramer, Nancy" sort="Kramer, Nancy" uniqKey="Kramer N" first="Nancy" last="Kramer">Nancy Kramer</name><affiliation wicri:level="2"><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Medical Genetics Institute, Cedars‐Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles</wicri:cityArea></affiliation></author><author><name sortKey="Hopkins, Elizabeth" sort="Hopkins, Elizabeth" uniqKey="Hopkins E" first="Elizabeth" last="Hopkins">Elizabeth Hopkins</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Delaware</region></placeName><wicri:cityArea>Medical Genetics, A. I. du Pont Hospital for Children, Wilmington</wicri:cityArea></affiliation></author><author><name sortKey="Graham Jr, John M" sort="Graham Jr, John M" uniqKey="Graham Jr J" first="John M." last="Graham Jr">John M. Graham Jr</name><affiliation wicri:level="2"><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Medical Genetics Institute, Cedars‐Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles</wicri:cityArea></affiliation></author><author><name sortKey="Dobyns, William B" sort="Dobyns, William B" uniqKey="Dobyns W" first="William B." last="Dobyns">William B. Dobyns</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Washington (État)</region></placeName><wicri:cityArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle</wicri:cityArea></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics Part A</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><biblScope unit="vol">158A</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="269">269</biblScope><biblScope unit="page" to="291">291</biblScope><biblScope unit="page-count">23</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2012-02">2012-02</date></imprint><idno type="ISSN">1552-4825</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="Teeft" xml:lang="en"><term>Abnormality</term><term>American journal</term><term>Anomaly</term><term>Asymmetry</term><term>Autistic features</term><term>Birth ofcs</term><term>Body overgrowth</term><term>Bossing</term><term>Brain overgrowth</term><term>Brainstem compression</term><term>Broad range</term><term>Callosum</term><term>Capillary malformation</term><term>Capillary malformations</term><term>Cbte</term><term>Cerebellar</term><term>Cerebellar tonsillar ectopia</term><term>Cerebellar tonsils</term><term>Cohort</term><term>Complete lack</term><term>Congenita</term><term>Congenital</term><term>Connective</term><term>Connective tissue</term><term>Connective tissue dysplasia</term><term>Conway</term><term>Corpus callosum</term><term>Cortical brain malformations</term><term>Cutaneous</term><term>Cutis marmorata</term><term>Developmental abnormalities</term><term>Developmental delay</term><term>Diagnostic criteria</term><term>Digital anomalies</term><term>Distal limb anomalies</term><term>Dobyns</term><term>Dysmy</term><term>Dysplasia</term><term>Early overgrowth</term><term>Ectopia</term><term>Fossa</term><term>Frontal bossing</term><term>Garavelli</term><term>Genet</term><term>Genet part</term><term>Genetics</term><term>Grant number</term><term>Grant sponsor</term><term>Gripp</term><term>Hemangioma</term><term>Human genetics</term><term>Hydrocephalus</term><term>Hypotonia</term><term>Infantile hemangiomas</term><term>Intellectual disability</term><term>Joint hypermobility</term><term>Large cerebellum</term><term>Longitudinal</term><term>Longitudinal data</term><term>Macrocephaly</term><term>Malformation</term><term>Malformation syndrome</term><term>Marmorata</term><term>Marmorata telangiectatica congenita</term><term>Marmorata telangiectatica congenita syndrome</term><term>Mcap</term><term>Mcap patients</term><term>Mcap syndrome</term><term>Medical genetics part</term><term>Mega</term><term>Mega corpus callosum</term><term>Megacc</term><term>Megalencephaly</term><term>Mirzaa</term><term>Motor development</term><term>Mpph</term><term>Mpph patients</term><term>Mpph syndrome</term><term>Mpph syndrome patients</term><term>Mpph syndromes</term><term>Ndings</term><term>Neonatal</term><term>Neonatal hypotonia</term><term>Neuroimaging</term><term>Neuroimaging features</term><term>Obstructive vmeg</term><term>Ofcs</term><term>Original mcap</term><term>Other features</term><term>Overgrowth</term><term>Overlap group</term><term>Overlap patients</term><term>Pathway</term><term>Perisylvian</term><term>Perisylvian polymicrogyria</term><term>Polydactyly</term><term>Polymicrogyria</term><term>Postaxial</term><term>Postaxial polydactyly</term><term>Posterior fossa</term><term>Progressive cbte</term><term>Research center</term><term>Secondary features</term><term>Selective brain overgrowth</term><term>Somatic</term><term>Somatic asymmetry</term><term>Somatic overgrowth</term><term>Subcutaneous</term><term>Subcutaneous tissue</term><term>Supraventricular tachycardia</term><term>Syndactyly</term><term>Syndrome</term><term>Telangiectatica</term><term>Tissue dysplasia</term><term>Tone abnormalities</term><term>Tonsillar</term><term>Variable degrees</term><term>Vascular</term><term>Vascular abnormalities</term><term>Vascular anomalies</term><term>Vascular malformation</term><term>Vascular malformations</term><term>Vascular ring</term><term>Vascular rings</term><term>Venous</term><term>Venous aneurysms</term><term>Ventricular shunting</term><term>Vmeg</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The macrocephaly‐capillary malformation syndrome (M‐CM), which we here propose to rename the megalencephaly‐capillary malformation syndrome (MCAP; alternatively the megalencephaly‐capillary malformation‐polymicrogyria syndrome), and the more recently described megalencephaly‐polymicrogyria‐polydactyly‐hydrocephalus syndrome (MPPH) are two megalencephaly (MEG) disorders that involve a unique constellation of physical and neuroimaging anomalies. We compare the features in 42 patients evaluated for physical and neuroimaging characteristics of MCAP and MPPH and propose a more global view of these syndromes based on classes of developmental abnormalities that include primary MEG and growth dysregulation, developmental vascular anomalies (primarily capillary malformations), distal limb anomalies (such as syndactyly and polydactyly), cortical brain malformations (most distinctively polymicrogyria, PMG), and variable connective tissue dysplasia. Based on these classes of developmental abnormalities, we propose that MCAP diagnostic criteria include progressive MEG with either vascular anomalies or syndactyly. In parallel, we propose that MPPH diagnostic criteria include progressive MEG and PMG, absence of the vascular anomalies and syndactyly characteristic of MCAP, and absence of brain heterotopia. © 2012 Wiley Periodicals, Inc.</div></front></TEI><affiliations><list><country><li>Israël</li><li>Pays-Bas</li><li>États-Unis</li></country><region><li>Californie</li><li>Delaware</li><li>Illinois</li><li>Michigan</li><li>Utrecht (province)</li><li>Washington (État)</li><li>Wisconsin</li></region><settlement><li>Utrecht</li></settlement></list><tree><country name="États-Unis"><region name="Illinois"><name sortKey="Mirzaa, Ghayda M" sort="Mirzaa, Ghayda M" uniqKey="Mirzaa G" first="Ghayda M." last="Mirzaa">Ghayda M. Mirzaa</name></region><name sortKey="Conway, Robert L" sort="Conway, Robert L" uniqKey="Conway R" first="Robert L." last="Conway">Robert L. Conway</name><name sortKey="Dobyns, William B" sort="Dobyns, William B" uniqKey="Dobyns W" first="William B." last="Dobyns">William B. Dobyns</name><name sortKey="Graham Jr, John M" sort="Graham Jr, John M" uniqKey="Graham Jr J" first="John M." last="Graham Jr">John M. Graham Jr</name><name sortKey="Gripp, Karen W" sort="Gripp, Karen W" uniqKey="Gripp K" first="Karen W." last="Gripp">Karen W. Gripp</name><name sortKey="Hopkins, Elizabeth" sort="Hopkins, Elizabeth" uniqKey="Hopkins E" first="Elizabeth" last="Hopkins">Elizabeth Hopkins</name><name sortKey="Kramer, Nancy" sort="Kramer, Nancy" uniqKey="Kramer N" first="Nancy" last="Kramer">Nancy Kramer</name><name sortKey="Mirzaa, Ghayda M" sort="Mirzaa, Ghayda M" uniqKey="Mirzaa G" first="Ghayda M." last="Mirzaa">Ghayda M. Mirzaa</name><name sortKey="Siegel, Dawn H" sort="Siegel, Dawn H" uniqKey="Siegel D" first="Dawn H." last="Siegel">Dawn H. Siegel</name></country><country name="Israël"><noRegion><name sortKey="Lerman Agie, Tally" sort="Lerman Agie, Tally" uniqKey="Lerman Agie T" first="Tally" last="Lerman-Sagie">Tally Lerman-Sagie</name></noRegion><name sortKey="Lerman Agie, Tally" sort="Lerman Agie, Tally" uniqKey="Lerman Agie T" first="Tally" last="Lerman-Sagie">Tally Lerman-Sagie</name><name sortKey="Lev, Dorit" sort="Lev, Dorit" uniqKey="Lev D" first="Dorit" last="Lev">Dorit Lev</name><name sortKey="Lev, Dorit" sort="Lev, Dorit" uniqKey="Lev D" first="Dorit" last="Lev">Dorit Lev</name></country><country name="Pays-Bas"><region name="Utrecht (province)"><name sortKey="Devries, Linda S" sort="Devries, Linda S" uniqKey="Devries L" first="Linda S." last="Devries">Linda S. Devries</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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