title: Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al.
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.
authors.affiliation: Instituto Nacional de Genética Médica, Buenos Aires, Argentina.
authors.forename: C
authors.initials: C
authors.lastname: Perandones
authors.forename: R I
authors.initials: RI
authors.lastname: Cerretini
authors.forename: R M
authors.initials: RM
authors.lastname: Vargas Vera
authors.forename: E I
authors.initials: EI
authors.lastname: Aranda
authors.forename: L G
authors.initials: LG
authors.lastname: Alba
authors.forename: O H
authors.initials: OH
authors.lastname: Pivetta
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000276:immunology; D000293:Adolescent; D002634:Chemotaxis, Leukocyte; D005145:Face / Q000002:abnormalities*; D006801:Humans; D007596:Joints / Q000002:abnormalities*; D007719:Knee Joint / Q000002:abnormalities / Q000000981:diagnostic imaging; D008297:Male; D008831:Microcephaly; D011859:Radiography; D013577:Syndrome