Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome

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2021-01-23
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A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978.