MICROCEPHALY, CHARACTERISTIC FACIES, JOINT ABNORMALITIES, AND DEFICIENT LEUKOCYTE CHEMOTAXIS - A FURTHER CASE OF THE SYNDROME OF SAY ET-AL

We report on a 13 year old boy with microcephaly, sloping forehead, pr ominent nose, scoliosis, and flexion contractures involving the elbows and knees. The patient showed severe mental and growth retardation. S ince birth and up to the present he has suffered from multiple and var ied infections. Immunological studies showed a marked decrease in leuc ocyte chemotaxis. Clinical and laboratory findings confirm the similar ity of this case to the two brothers described by Say et al. We have n ot found any descriptions of similar patients. The purpose of this pap er is to contribute to the phenotypic delineation of this syndrome and to highlight the need for immunological investigation in patients wit h multiple congenital malformations.