Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al

Autores
Perandones, Claudia; Cerretini, Roxana Inés; Vargas Vera, R M; Aranda, Eliseo Isaac; Alba, Liliana; Pivetta, Omar H.
Año de publicación
1996
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Fil: Perandones, Claudia. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Cerretini, Roxana Inés. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Vargas Vera, R. M. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Aranda, Eliseo Isaac. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Alba, Liliana. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Pivetta, Omar H. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
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.
Fuente
Journal of medical genetics 1996;33:227-229
Materia
Microcefalia
Acondroplasia
Discapacidades del Desarrollo
Nivel de accesibilidad
acceso abierto
Condiciones de uso
Repositorio
Sistema de Gestión del Conocimiento ANLIS MALBRÁN
Institución
Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"
OAI Identificador
oai:sgc.anlis.gob.ar:Publications/123456789/1573
Acceder
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oai_identifier_str oai:sgc.anlis.gob.ar:Publications/123456789/1573
network_acronym_str SGCANLIS
repository_id_str a
network_name_str Sistema de Gestión del Conocimiento ANLIS MALBRÁN
spelling Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et alPerandones, ClaudiaCerretini, Roxana InésVargas Vera, R MAranda, Eliseo IsaacAlba, LilianaPivetta, Omar H.MicrocefaliaAcondroplasiaDiscapacidades del DesarrolloFil: Perandones, Claudia. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.Fil: Cerretini, Roxana Inés. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.Fil: Vargas Vera, R. M. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.Fil: Aranda, Eliseo Isaac. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.Fil: Alba, Liliana. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.Fil: Pivetta, Omar H. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.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.1996-03info:ar-repo/semantics/articuloinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdf0022-2593https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051873/http://sgc.anlis.gob.ar/handle/123456789/157310.1136/jmg.33.3.227Journal of medical genetics 1996;33:227-229reponame:Sistema de Gestión del Conocimiento ANLIS MALBRÁNinstname:Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"instacron:ANLISJournal of medical geneticsenginfo:eu-repo/semantics/openAccess2025-10-23T11:20:23Zoai:sgc.anlis.gob.ar:Publications/123456789/1573Institucionalhttp://sgc.anlis.gob.ar/Organismo científico-tecnológicoNo correspondehttp://sgc.anlis.gob.ar/oai/biblioteca@anlis.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:a2025-10-23 11:20:24.071Sistema de Gestión del Conocimiento ANLIS MALBRÁN - Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"false
dc.title.none.fl_str_mv Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al
title Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al
spellingShingle Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al
Perandones, Claudia
Microcefalia
Acondroplasia
Discapacidades del Desarrollo
title_short Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al
title_full Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al
title_fullStr Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al
title_full_unstemmed Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al
title_sort Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al
dc.creator.none.fl_str_mv Perandones, Claudia
Cerretini, Roxana Inés
Vargas Vera, R M
Aranda, Eliseo Isaac
Alba, Liliana
Pivetta, Omar H.
author Perandones, Claudia
author_facet Perandones, Claudia
Cerretini, Roxana Inés
Vargas Vera, R M
Aranda, Eliseo Isaac
Alba, Liliana
Pivetta, Omar H.
author_role author
author2 Cerretini, Roxana Inés
Vargas Vera, R M
Aranda, Eliseo Isaac
Alba, Liliana
Pivetta, Omar H.
author2_role author
author
author
author
author
dc.subject.none.fl_str_mv Microcefalia
Acondroplasia
Discapacidades del Desarrollo
topic Microcefalia
Acondroplasia
Discapacidades del Desarrollo
dc.description.none.fl_txt_mv Fil: Perandones, Claudia. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Cerretini, Roxana Inés. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Vargas Vera, R. M. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Aranda, Eliseo Isaac. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Alba, Liliana. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Pivetta, Omar H. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
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.
description Fil: Perandones, Claudia. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
publishDate 1996
dc.date.none.fl_str_mv 1996-03
dc.type.none.fl_str_mv info:ar-repo/semantics/articulo
info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv 0022-2593
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051873/
http://sgc.anlis.gob.ar/handle/123456789/1573
10.1136/jmg.33.3.227
identifier_str_mv 0022-2593
10.1136/jmg.33.3.227
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051873/
http://sgc.anlis.gob.ar/handle/123456789/1573
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Journal of medical genetics
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv Journal of medical genetics 1996;33:227-229
reponame:Sistema de Gestión del Conocimiento ANLIS MALBRÁN
instname:Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"
instacron:ANLIS
reponame_str Sistema de Gestión del Conocimiento ANLIS MALBRÁN
collection Sistema de Gestión del Conocimiento ANLIS MALBRÁN
instname_str Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"
instacron_str ANLIS
institution ANLIS
repository.name.fl_str_mv Sistema de Gestión del Conocimiento ANLIS MALBRÁN - Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"
repository.mail.fl_str_mv biblioteca@anlis.gov.ar
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score 13.10058

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