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

dc.creatorPerandones, Claudia
dc.creatorCerretini, Roxana Inés
dc.creatorVargas Vera, R M
dc.creatorAranda, Eliseo Isaac
dc.creatorAlba, Liliana
dc.creatorPivetta, Omar H.
dc.date2020-05-17T22:28:45Z
dc.date2020-05-17T22:28:51Z
dc.date2020-05-17T22:28:45Z
dc.date2020-05-17T22:28:51Z
dc.date1996-03
dc.date.accessioned2023-08-29T20:06:50Z
dc.date.available2023-08-29T20:06:50Z
dc.identifier0022-2593
dc.identifierhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051873/
dc.identifierhttp://sgc.anlis.gob.ar/handle/123456789/1573
dc.identifier10.1136/jmg.33.3.227
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8519334
dc.descriptionFil: Perandones, Claudia. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
dc.descriptionFil: Cerretini, Roxana Inés. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
dc.descriptionFil: Vargas Vera, R. M. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
dc.descriptionFil: Aranda, Eliseo Isaac. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
dc.descriptionFil: Alba, Liliana. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
dc.descriptionFil: Pivetta, Omar H. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
dc.descriptionWe 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.
dc.formatpdf
dc.languageen
dc.relationJournal of medical genetics
dc.rightsopen
dc.sourceJournal of medical genetics 1996;33:227-229
dc.subjectMicrocefalia
dc.subjectAcondroplasia
dc.subjectDiscapacidades del Desarrollo
dc.titleMicrocephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al
dc.typeArtículo


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