Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?
Identifieur interne : 005E07 ( Main/Curation ); précédent : 005E06; suivant : 005E08Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?
Auteurs : Mary C. O'Driscoll [Royaume-Uni] ; Kim Jenny [États-Unis] ; Sulagna Saitta [États-Unis] ; William B. Dobyns [États-Unis] ; Karen W. Gripp [États-Unis]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2010-07.
Descripteurs français
- KwdFr :
- MESH :
- Pascal (Inist)
English descriptors
- KwdEn :
- Acrocallosal Syndrome (complications), Agenesis, Agenesis of Corpus Callosum, Child, Preschool, Congenital, Corpus callosum, Developmental disorder, Facies, Female, Humans, Infant, Infant, Newborn, Lymphedema, Lymphedema (complications), Lymphedema (congenital), Magnetic Resonance Imaging, Male, Malformation, Pregnancy, Sacrum, Syndrome.
- MESH :
- complications : Acrocallosal Syndrome, Lymphedema.
- congenital : Lymphedema.
- Agenesis of Corpus Callosum, Child, Preschool, Facies, Female, Humans, Infant, Infant, Newborn, Magnetic Resonance Imaging, Male, Pregnancy, Syndrome.
Abstract
We present double first cousins, a girl and a boy, with the uncommon association of agenesis of the corpus callosum and congenital lymphedema. Other features shared by both include oligohydramnios, similar facial dysmorphism, sacral dimple, developmental delay, and sociable personality. While some of these findings overlap with FG syndrome and Hennekam syndrome, the findings in our patients are sufficiently different to exclude these diagnoses. We propose that this is a new syndrome with presumed autosomal recessive inheritance. © 2010 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.a.33200
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<front><div type="abstract" xml:lang="en">We present double first cousins, a girl and a boy, with the uncommon association of agenesis of the corpus callosum and congenital lymphedema. Other features shared by both include oligohydramnios, similar facial dysmorphism, sacral dimple, developmental delay, and sociable personality. While some of these findings overlap with FG syndrome and Hennekam syndrome, the findings in our patients are sufficiently different to exclude these diagnoses. We propose that this is a new syndrome with presumed autosomal recessive inheritance. © 2010 Wiley‐Liss, Inc.</div>
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<author><name sortKey="Gripp, Karen W" sort="Gripp, Karen W" uniqKey="Gripp K" first="Karen W." last="Gripp">Karen W. Gripp</name>
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<author><name sortKey="O Driscoll, Mary C" sort="O Driscoll, Mary C" uniqKey="O Driscoll M" first="Mary C." last="O'Driscoll">Mary C. O'Driscoll</name>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Medical Genetics Research Group and Regional Genetics Service, St Mary's Hospital, Manchester</wicri:regionArea>
<placeName><settlement type="city">Manchester</settlement>
<region type="country">Angleterre</region>
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<affiliation wicri:level="4"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester, Central Manchester University Hospitals, NHS Foundation Trust, St Mary's Hospital, Oxford Road, Manchester M13 9002</wicri:regionArea>
<orgName type="university">Université de Manchester</orgName>
<placeName><settlement type="city">Manchester</settlement>
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<author><name sortKey="Jenny, Kim" sort="Jenny, Kim" uniqKey="Jenny K" first="Kim" last="Jenny">Kim Jenny</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Delaware</region>
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<wicri:cityArea>Division of Medical Genetics, Alfred I. DuPont Hospital for Children, Wilmington</wicri:cityArea>
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<author><name sortKey="Saitta, Sulagna" sort="Saitta, Sulagna" uniqKey="Saitta S" first="Sulagna" last="Saitta">Sulagna Saitta</name>
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<placeName><region type="state">Pennsylvanie</region>
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<author><name sortKey="Dobyns, William B" sort="Dobyns, William B" uniqKey="Dobyns W" first="William B." last="Dobyns">William B. Dobyns</name>
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<wicri:cityArea>Departments of Human Genetics, Neurology and Pediatrics, The University of Chicago, Chicago</wicri:cityArea>
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<author><name sortKey="Gripp, Karen W" sort="Gripp, Karen W" uniqKey="Gripp K" first="Karen W." last="Gripp">Karen W. Gripp</name>
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<placeName><region type="state">Delaware</region>
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<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>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Acrocallosal Syndrome (complications)</term>
<term>Agenesis of Corpus Callosum</term>
<term>Child, Preschool</term>
<term>Facies</term>
<term>Female</term>
<term>Humans</term>
<term>Infant</term>
<term>Infant, Newborn</term>
<term>Lymphedema (complications)</term>
<term>Lymphedema (congenital)</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Pregnancy</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Agénésie du corps calleux</term>
<term>Enfant d'âge préscolaire</term>
<term>Faciès</term>
<term>Femelle</term>
<term>Grossesse</term>
<term>Humains</term>
<term>Imagerie par résonance magnétique</term>
<term>Lymphoedème ()</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Nouveau-né</term>
<term>Syndrome</term>
<term>Syndrome acrocalleux ()</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Acrocallosal Syndrome</term>
<term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Agenesis of Corpus Callosum</term>
<term>Child, Preschool</term>
<term>Facies</term>
<term>Female</term>
<term>Humans</term>
<term>Infant</term>
<term>Infant, Newborn</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Pregnancy</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Agénésie du corps calleux</term>
<term>Enfant d'âge préscolaire</term>
<term>Faciès</term>
<term>Femelle</term>
<term>Grossesse</term>
<term>Humains</term>
<term>Imagerie par résonance magnétique</term>
<term>Lymphoedème</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Nouveau-né</term>
<term>Syndrome</term>
<term>Syndrome acrocalleux</term>
</keywords>
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<front><div type="abstract" xml:lang="en">We present double first cousins, a girl and a boy, with the uncommon association of agenesis of the corpus callosum and congenital lymphedema. Other features shared by both include oligohydramnios, similar facial dysmorphism, sacral dimple, developmental delay, and sociable personality. While some of these findings overlap with FG syndrome and Hennekam syndrome, the findings in our patients are sufficiently different to exclude these diagnoses. We propose that this is a new syndrome with presumed autosomal recessive inheritance. © 2010 Wiley‐Liss, Inc.</div>
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