Newly recognized autosomal recessive MCA/MR/ overgrowth syndrome
Identifieur interne : 00CE85 ( Main/Exploration ); précédent : 00CE84; suivant : 00CE86Newly recognized autosomal recessive MCA/MR/ overgrowth syndrome
Auteurs : A. Richieri-Costa [Brésil] ; M. L. Guion-Almeida [Brésil] ; M. M. Cohen Jr. [Canada]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1993-08-15.
Abstract
We report on two sibs, born to nonconsanguineous parents, presenting with mental retardation, overgrowth, craniosynostosis, distal arthrogryposis, sacral dimple, and joint laxity. These patients may have a previously undescribed autosomal recessive syndrome. © 1993 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.1320470227
Affiliations:
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Richieri-Costa</name><affiliation wicri:level="4"><country xml:lang="fr">Brésil</country><wicri:regionArea>Serviço de Genética Dlínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio‐Palatais, Universidade de São Paulo, Bauru, SP</wicri:regionArea><placeName><region type="state">État de São Paulo</region><settlement type="city">São Paulo</settlement></placeName><orgName type="university">Université de São Paulo</orgName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">Brésil</country><wicri:regionArea>Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio‐Palatais, USP, PO Box 620, 17043 Bauru, SP</wicri:regionArea><placeName><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Guion Lmeida, M L" sort="Guion Lmeida, M L" uniqKey="Guion Lmeida M" first="M. L." last="Guion-Almeida">M. L. 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Cohen Jr.</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Oral Pathology, Faculty of Dentistry, and Department of Pediatrics, Faculty of Medicine, Dalhousie University, Halifax</wicri:regionArea><wicri:noRegion>Halifax</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">47</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="278">278</biblScope><biblScope unit="page" to="280">280</biblScope><biblScope unit="page-count">3</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1993-08-15">1993-08-15</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="en">We report on two sibs, born to nonconsanguineous parents, presenting with mental retardation, overgrowth, craniosynostosis, distal arthrogryposis, sacral dimple, and joint laxity. These patients may have a previously undescribed autosomal recessive syndrome. © 1993 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Brésil</li><li>Canada</li></country><region><li>État de São Paulo</li></region><settlement><li>São Paulo</li></settlement><orgName><li>Université de São Paulo</li></orgName></list><tree><country name="Brésil"><region name="État de São Paulo"><name sortKey="Richieri Osta, A" sort="Richieri Osta, A" uniqKey="Richieri Osta A" first="A." last="Richieri-Costa">A. Richieri-Costa</name></region><name sortKey="Guion Lmeida, M L" sort="Guion Lmeida, M L" uniqKey="Guion Lmeida M" first="M. L." last="Guion-Almeida">M. L. Guion-Almeida</name><name sortKey="Richieri Osta, A" sort="Richieri Osta, A" uniqKey="Richieri Osta A" first="A." last="Richieri-Costa">A. Richieri-Costa</name></country><country name="Canada"><noRegion><name sortKey="Cohen Jr, M M" sort="Cohen Jr, M M" uniqKey="Cohen Jr M" first="M. M." last="Cohen Jr.">M. M. Cohen Jr.</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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