Dominant inheritance and intra–familial variations in the association of Sturge–Weber and Klippel–Trenaunay–Weber syndromes
Identifieur interne : 005943 ( Main/Exploration ); précédent : 005942; suivant : 005944Dominant inheritance and intra–familial variations in the association of Sturge–Weber and Klippel–Trenaunay–Weber syndromes
Auteurs : José Maria Pereira De Godoy ; Agnes Cristina Fett-Conte [Brésil]Source :
- Indian Journal of Human Genetics [ 0971-6866 ] ; 2010.
Abstract
This case report shows a genealogical study where a woman has limb hypertrophy and her son has an association of Sturge–Weber syndrome with Klippel–Trenaunay–Weber syndrome. The Sturge–Weber and Klippel–Trenaunay–Weber syndromes appear to be different manifestations of the same affliction. Familial aggregation exists and transmission may be almost imperceptible between generations. Identification of minor manifestations may prove to be a valuable contribution to genetic counseling of families and the prevention of new cases.
Url:
DOI: 10.4103/0971-6866.64943
PubMed: 20838488
PubMed Central: 2927790
Affiliations:
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The Sturge–Weber and Klippel–Trenaunay–Weber syndromes appear to be different manifestations of the same affliction. Familial aggregation exists and transmission may be almost imperceptible between generations. Identification of minor manifestations may prove to be a valuable contribution to genetic counseling of families and the prevention of new cases.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Jacob, Ag" uniqKey="Jacob A">AG Jacob</name></author><author><name sortKey="Driscoll, Dj" uniqKey="Driscoll D">DJ Driscoll</name></author><author><name sortKey="Shaughnessy, Wj" uniqKey="Shaughnessy W">WJ Shaughnessy</name></author><author><name sortKey="Stanson, Aw" uniqKey="Stanson A">AW Stanson</name></author><author><name sortKey="Clay, Rp" uniqKey="Clay R">RP Clay</name></author><author><name sortKey="Gloviczki, P" uniqKey="Gloviczki P">P Gloviczki</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kihiczak, Gg" uniqKey="Kihiczak G">GG Kihiczak</name></author><author><name sortKey="Meine, Jg" uniqKey="Meine J">JG Meine</name></author><author><name sortKey="Schwartz, Ra" uniqKey="Schwartz R">RA Schwartz</name></author><author><name sortKey="Janniger, Ck" uniqKey="Janniger C">CK Janniger</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Di Rocco, C" uniqKey="Di Rocco C">C Di Rocco</name></author><author><name sortKey="Tamburrini, G" uniqKey="Tamburrini G">G Tamburrini</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Madaan, V" uniqKey="Madaan V">V Madaan</name></author><author><name sortKey="Dewan, V" uniqKey="Dewan V">V Dewan</name></author><author><name sortKey="Ramaswamy, S" uniqKey="Ramaswamy S">S Ramaswamy</name></author><author><name sortKey="Sharma, A" uniqKey="Sharma A">A Sharma</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Garzon, Mc" uniqKey="Garzon M">MC Garzon</name></author><author><name sortKey="Huang, Jt" uniqKey="Huang J">JT Huang</name></author><author><name sortKey="Enjolras, O" uniqKey="Enjolras O">O Enjolras</name></author><author><name sortKey="Frieden, Ij" uniqKey="Frieden I">IJ Frieden</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ceballos Quintal, Jm" uniqKey="Ceballos Quintal J">JM Ceballos-Quintal</name></author><author><name sortKey="Pinto Escalante, D" uniqKey="Pinto Escalante D">D Pinto-Escalante</name></author><author><name sortKey="Castillo Zapata, I" uniqKey="Castillo Zapata I">I Castillo-Zapata</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Berry, As" uniqKey="Berry A">AS Berry</name></author><author><name sortKey="Peterson, C" uniqKey="Peterson C">C Peterson</name></author><author><name sortKey="Mize, W" uniqKey="Mize W">W Mize</name></author><author><name sortKey="Bloom, K" uniqKey="Bloom K">K Bloom</name></author><author><name sortKey="Zachary, C" uniqKey="Zachary C">C Zachary</name></author><author><name sortKey="Blasco, P" uniqKey="Blasco P">P Blasco</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Cohen, Mm" uniqKey="Cohen M">MM Cohen</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Timur, Aa" uniqKey="Timur A">AA Timur</name></author><author><name sortKey="Driscoll, Dj" uniqKey="Driscoll D">DJ Driscoll</name></author><author><name sortKey="Wang, Q" uniqKey="Wang Q">Q Wang</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Tian, Xl" uniqKey="Tian X">XL Tian</name></author><author><name sortKey="Kadaba, R" uniqKey="Kadaba R">R Kadaba</name></author><author><name sortKey="You, Sa" uniqKey="You S">SA You</name></author><author><name sortKey="Liu, M" uniqKey="Liu M">M Liu</name></author><author><name sortKey="Timur, Aa" uniqKey="Timur A">AA Timur</name></author><author><name sortKey="Yang, L" uniqKey="Yang L">L Yang</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Brésil</li></country></list><tree><noCountry><name sortKey="Pereira De Godoy, Jose Maria" sort="Pereira De Godoy, Jose Maria" uniqKey="Pereira De Godoy J" first="José Maria" last="Pereira De Godoy">José Maria Pereira De Godoy</name></noCountry><country name="Brésil"><noRegion><name sortKey="Fett Conte, Agnes Cristina" sort="Fett Conte, Agnes Cristina" uniqKey="Fett Conte A" first="Agnes Cristina" last="Fett-Conte">Agnes Cristina Fett-Conte</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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