| Syndrome with characteristics of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation. It has been reported in two brothers born to normal parents. Additional features include hypogonadism, flexion contractures, hypoplastic patella, scoliosis, eczema and recurrent infections. The characteristic facies were marked by sloping forehead, beaked nose, large protruding ears and micrognathia. Low levels of serum gammaglobulins and defective chemotaxis were detected in both boys during infancy. |
