RT Journal Article SR Electronic T1 Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al. JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 227 OP 229 DO 10.1136/jmg.33.3.227 VO 33 IS 3 A1 Perandones, C A1 Cerretini, R I A1 Vargas Vera, R M A1 Aranda, E I A1 Alba, L G A1 Pivetta, O H YR 1996 UL http://jmg.bmj.com/content/33/3/227.abstract AB 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.