Say-Barber-Miller Syndrome

Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation.

Epidemiology

It has been reported in two brothers born to normal parents.

Clinical description

Additional features include hypogonadism, flexion contractures, hypoplastic patellae, scoliosis, eczema and recurrent infections. The characteristic facies was marked by a sloping forehead, beaked nose, large and protruding ears, and micrognathia. Low levels of serum gammaglobulins and defective chemotaxis were detected in both boys during infancy.

Prognosis

The hypogammaglobulinaemia improved with age but the defective chemotaxis and recurrent infections persisted.