Persistence of Müllerian derivatives and intestinal lymphangiectasis in two newborn brothers: Confirmation of the Urioste syndrome
Identifieur interne : 000717 ( France/Analysis ); précédent : 000716; suivant : 000718Persistence of Müllerian derivatives and intestinal lymphangiectasis in two newborn brothers: Confirmation of the Urioste syndrome
Auteurs : Carlo Bellini [Italie] ; Eugenio Bonioli [Italie] ; Nathalie Josso [France] ; Corinne Belville [France] ; Massimo Mazzella [Italie] ; Simona Costabel [Italie] ; Angela Rita Sementa [Italie] ; Carla Enrica Marino [Italie] ; Paolo Tomà [Italie] ; Raoul C. M. Hennekam [Pays-Bas] ; Giovanni Serra [Italie]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 2001-11-15.
Abstract
We describe two newborn brothers with a pattern of malformation characterized by the persistence of Müllerian duct derivatives, intestinal lymphangiectasia, hypertrophied alveolar ridges, and early death. Postmortem examination showed the presence of a rudimentary uterus, fallopian tubes, the upper third of a vagina, a prostate of normal shape, a dilated colon, and generalized intestinal and pulmonary lumphangiectasia. The syndrome was first delineated by Urioste and co‐workers [1993: Am J Med Genet 47:494–503]. These cases confirm the existence of a definite and distinct entity. © 2001 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.1599
Affiliations:
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Gaslini, Genova</wicri:regionArea><wicri:noRegion>Genova</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Pediatria, Università di Genova, Istituto G. Gaslini, Largo G. Gaslini, 5, 16147 Genova</wicri:regionArea><wicri:noRegion>16147 Genova</wicri:noRegion></affiliation></author><author><name sortKey="Bonioli, Eugenio" sort="Bonioli, Eugenio" uniqKey="Bonioli E" first="Eugenio" last="Bonioli">Eugenio Bonioli</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>1° Clinica Pediatrica, Dipartimento di Pediatria, Università di Genova, Istituto G. Gaslini, Genova</wicri:regionArea><wicri:noRegion>Genova</wicri:noRegion></affiliation></author><author><name sortKey="Josso, Nathalie" sort="Josso, Nathalie" uniqKey="Josso N" first="Nathalie" last="Josso">Nathalie Josso</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Unité de Recherches sur l'Endocrinologie du Développement (INSERM), Ecole Normale Supérieure, Département de Biologie, Montrouge</wicri:regionArea><wicri:noRegion>Montrouge</wicri:noRegion><wicri:noRegion>Montrouge</wicri:noRegion></affiliation></author><author><name sortKey="Belville, Corinne" sort="Belville, Corinne" uniqKey="Belville C" first="Corinne" last="Belville">Corinne Belville</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Unité de Recherches sur l'Endocrinologie du Développement (INSERM), Ecole Normale Supérieure, Département de Biologie, Montrouge</wicri:regionArea><wicri:noRegion>Montrouge</wicri:noRegion><wicri:noRegion>Montrouge</wicri:noRegion></affiliation></author><author><name sortKey="Mazzella, Massimo" sort="Mazzella, Massimo" uniqKey="Mazzella M" first="Massimo" last="Mazzella">Massimo Mazzella</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Servizio di Patologia Neonatale, Dipartimento di Pediatria, Università di Genova, Istituto G. Gaslini, Genova</wicri:regionArea><wicri:noRegion>Genova</wicri:noRegion></affiliation></author><author><name sortKey="Costabel, Simona" sort="Costabel, Simona" uniqKey="Costabel S" first="Simona" last="Costabel">Simona Costabel</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>1° Clinica Pediatrica, Dipartimento di Pediatria, Università di Genova, Istituto G. Gaslini, Genova</wicri:regionArea><wicri:noRegion>Genova</wicri:noRegion></affiliation></author><author><name sortKey="Sementa, Angela Rita" sort="Sementa, Angela Rita" uniqKey="Sementa A" first="Angela Rita" last="Sementa">Angela Rita Sementa</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Servizio di Anatomia Patologica, Istituto G. 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Hennekam</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Pediatrics and Clinical Genetics, Academic Medical Center, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Serra, Giovanni" sort="Serra, Giovanni" uniqKey="Serra G" first="Giovanni" last="Serra">Giovanni Serra</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Servizio di Patologia Neonatale, Dipartimento di Pediatria, Università di Genova, Istituto G. Gaslini, Genova</wicri:regionArea><wicri:noRegion>Genova</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><imprint><biblScope unit="vol">104</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="69">69</biblScope><biblScope unit="page" to="74">74</biblScope><biblScope unit="page-count">6</biblScope><publisher>John Wiley & Sons, Inc.</publisher><pubPlace>New York</pubPlace><date type="published" when="2001-11-15">2001-11-15</date></imprint><idno type="ISSN">0148-7299</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0148-7299</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="de">We describe two newborn brothers with a pattern of malformation characterized by the persistence of Müllerian duct derivatives, intestinal lymphangiectasia, hypertrophied alveolar ridges, and early death. Postmortem examination showed the presence of a rudimentary uterus, fallopian tubes, the upper third of a vagina, a prostate of normal shape, a dilated colon, and generalized intestinal and pulmonary lumphangiectasia. The syndrome was first delineated by Urioste and co‐workers [1993: Am J Med Genet 47:494–503]. These cases confirm the existence of a definite and distinct entity. © 2001 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>France</li><li>Italie</li><li>Pays-Bas</li></country><region><li>Hollande-Septentrionale</li></region><settlement><li>Amsterdam</li></settlement></list><tree><country name="Italie"><noRegion><name sortKey="Bellini, Carlo" sort="Bellini, Carlo" uniqKey="Bellini C" first="Carlo" last="Bellini">Carlo Bellini</name></noRegion><name sortKey="Bellini, Carlo" sort="Bellini, Carlo" uniqKey="Bellini C" first="Carlo" last="Bellini">Carlo Bellini</name><name sortKey="Bonioli, Eugenio" sort="Bonioli, Eugenio" uniqKey="Bonioli E" first="Eugenio" last="Bonioli">Eugenio Bonioli</name><name sortKey="Costabel, Simona" sort="Costabel, Simona" uniqKey="Costabel S" first="Simona" last="Costabel">Simona Costabel</name><name sortKey="Marino, Carla Enrica" sort="Marino, Carla Enrica" uniqKey="Marino C" first="Carla Enrica" last="Marino">Carla Enrica Marino</name><name sortKey="Mazzella, Massimo" sort="Mazzella, Massimo" uniqKey="Mazzella M" first="Massimo" last="Mazzella">Massimo Mazzella</name><name sortKey="Sementa, Angela Rita" sort="Sementa, Angela Rita" uniqKey="Sementa A" first="Angela Rita" last="Sementa">Angela Rita Sementa</name><name sortKey="Serra, Giovanni" sort="Serra, Giovanni" uniqKey="Serra G" first="Giovanni" last="Serra">Giovanni Serra</name><name sortKey="Toma, Paolo" sort="Toma, Paolo" uniqKey="Toma P" first="Paolo" last="Tomà">Paolo Tomà</name></country><country name="France"><noRegion><name sortKey="Josso, Nathalie" sort="Josso, Nathalie" uniqKey="Josso N" first="Nathalie" last="Josso">Nathalie Josso</name></noRegion><name sortKey="Belville, Corinne" sort="Belville, Corinne" uniqKey="Belville C" first="Corinne" last="Belville">Corinne Belville</name></country><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Hennekam, Raoul C M" sort="Hennekam, Raoul C M" uniqKey="Hennekam R" first="Raoul C. M." last="Hennekam">Raoul C. M. Hennekam</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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