Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al.
Identifieur interne : 001897 ( Pmc/Corpus ); précédent : 001896; suivant : 001898Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al.
Auteurs : C. Perandones ; R I Cerretini ; R M Vargas Vera ; E I Aranda ; L G Alba ; O H PivettaSource :
- Journal of Medical Genetics [ 0022-2593 ] ; 1996.
Abstract
We report on a 13 year old boy with microcephaly, sloping forehead, prominent nose, scoliosis, and flexion contractures involving the elbows and knees. The patient showed severe mental and growth retardation. Since birth and up to the present he has suffered from multiple and varied infections. Immunological studies showed a marked decrease in leucocyte chemotaxis. Clinical and laboratory findings confirm the similarity of this case to the two brothers described by Say et al. We have not found any descriptions of similar patients. The purpose of this paper is to contribute to the phenotypic delineation of this syndrome and to highlight the need for immunological investigation in patients with multiple congenital malformations.
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PubMed: 8728697
PubMed Central: 1051873
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<front><journal-meta><journal-id journal-id-type="nlm-ta">J Med Genet</journal-id><journal-title>Journal of Medical Genetics</journal-title><issn pub-type="ppub">0022-2593</issn><issn pub-type="epub">1468-6244</issn></journal-meta><article-meta><article-id pub-id-type="pmid">8728697</article-id><article-id pub-id-type="pmc">1051873</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group></article-categories><title-group><article-title>Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al.</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Perandones</surname><given-names>C</given-names></name></contrib><contrib contrib-type="author"><name><surname>Cerretini</surname><given-names>R I</given-names></name></contrib><contrib contrib-type="author"><name><surname>Vargas Vera</surname><given-names>R M</given-names></name></contrib><contrib contrib-type="author"><name><surname>Aranda</surname><given-names>E I</given-names></name></contrib><contrib contrib-type="author"><name><surname>Alba</surname><given-names>L G</given-names></name></contrib><contrib contrib-type="author"><name><surname>Pivetta</surname><given-names>O H</given-names></name></contrib></contrib-group><aff>Instituto Nacional de Genética Médica, Buenos Aires, Argentina.</aff><pub-date pub-type="ppub"><month>3</month><year>1996</year></pub-date><volume>33</volume><issue>3</issue><fpage>227</fpage><lpage>229</lpage><abstract><p>We report on a 13 year old boy with microcephaly, sloping forehead, prominent nose, scoliosis, and flexion contractures involving the elbows and knees. The patient showed severe mental and growth retardation. Since birth and up to the present he has suffered from multiple and varied infections. Immunological studies showed a marked decrease in leucocyte chemotaxis. Clinical and laboratory findings confirm the similarity of this case to the two brothers described by Say et al. We have not found any descriptions of similar patients. The purpose of this paper is to contribute to the phenotypic delineation of this syndrome and to highlight the need for immunological investigation in patients with multiple congenital malformations.</p><sec sec-type="scanned-figures"><title>Images</title><fig id="F1"><graphic xlink:href="jmedgene00257-0051-a" xlink:role="227"></graphic></fig><fig id="F2"><graphic xlink:href="jmedgene00257-0052-a" xlink:role="228"></graphic></fig><fig id="F3"><graphic xlink:href="jmedgene00257-0052-b" xlink:role="228"></graphic></fig></sec></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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