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Say-Barber-Miller syndrome
Disease definition
Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation.
ORPHA:3132
Classification level: DisorderSummary
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.
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