Expansion of the phenotype in Hennekam syndrome: A case with new manifestations
Identifieur interne : 00BB02 ( Main/Exploration ); précédent : 00BB01; suivant : 00BB03Expansion of the phenotype in Hennekam syndrome: A case with new manifestations
Auteurs : Brad Angle [États-Unis] ; Joseph H. Hersh [États-Unis]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1997-08-08.
Descripteurs français
- KwdFr :
- Déficience intellectuelle (génétique), Femelle, Gènes récessifs, Humains, Lymphangiectasie intestinale (), Lymphangiectasie intestinale (génétique), Lymphoedème (), Lymphoedème (génétique), Malformations crâniofaciales (génétique), Malformations multiples (génétique), Nouveau-né, Phénotype, Syndrome.
- MESH :
- Pascal (Inist)
- Association, Cardiopathie, Congénital, Dysmorphie faciale, Enfant, Etude cas, Femelle, Gènes récessifs, Hennekam syndrome, Humains, Intestin, Lymphangiectasie, Lymphangiectasie intestinale, Lymphoedème, Nouveau-né, Phénotype, Prolapsus, Rectum, Surdité transmission, Syndrome, Synthèse bibliographique.
- Wicri :
- topic : Association, Enfant.
English descriptors
- KwdEn :
- Abnormalities, Multiple (genetics), Association, Bibliographic survey, Case study, Child, Conduction hearing loss, Congenital, Craniofacial Abnormalities (genetics), Dysmorphic facies, Female, Genes, Recessive, Gut, Heart disease, Hennekam syndrome, Humans, Infant, Newborn, Intellectual Disability (genetics), Lymphangiectasis, Lymphangiectasis, Intestinal (congenital), Lymphangiectasis, Intestinal (genetics), Lymphedema, Lymphedema (congenital), Lymphedema (genetics), Phenotype, Prolapsus, Rectum, Syndrome.
- MESH :
Abstract
We report on a female with lymphedema, facial anomalies, intestinal lymphangiectasia, and moderate mental retardation consistent with the diagnosis of Hennekam syndrome. In addition, she had a number of other anomalies not previously described in this autosomal recessive disorder, including a congenital heart defect, atretic ear canals, vesicoureteral reflux, and rectal prolapse. Am. J. Med. Genet. 71:211–214, 1997. © 1997 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/(SICI)1096-8628(19970808)71:2<211::AID-AJMG17>3.0.CO;2-H
Affiliations:
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Le document en format XML
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In addition, she had a number of other anomalies not previously described in this autosomal recessive disorder, including a congenital heart defect, atretic ear canals, vesicoureteral reflux, and rectal prolapse. Am. J. Med. Genet. 71:211–214, 1997. © 1997 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Kentucky</li></region></list><tree><country name="États-Unis"><region name="Kentucky"><name sortKey="Angle, Brad" sort="Angle, Brad" uniqKey="Angle B" first="Brad" last="Angle">Brad Angle</name></region><name sortKey="Hersh, Joseph H" sort="Hersh, Joseph H" uniqKey="Hersh J" first="Joseph H." last="Hersh">Joseph H. Hersh</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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