Artículo
Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al
Registro en:
0022-2593
10.1136/jmg.33.3.227
Autor
Perandones, Claudia
Cerretini, Roxana Inés
Vargas Vera, R M
Aranda, Eliseo Isaac
Alba, Liliana
Pivetta, Omar H.
Resumen
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.