The family pedigree in this communication represents a new syndrome of deafness which is probably inherited as an autosomal recessive, as it was seen in two children in a family with a consanguineous marriage and with sporadic deafness in other parts of the family. The syndrome appears to consist of congenital deafness with profound sensorineural hearing loss, but with preserved vestibular apparatus, with associated findings including short stature, vitiligo, muscle wasting, and achalasia. In addition, minimal changes were found in the electroencephalogram and globulin levels, and the cephalin-cholesterol flocculation, and thymol turbidity test results were elevated.
Rozycki DL, Ruben RJ, Rapin I, Spiro AJ. Autosomal Recessive Deafness: Associated With Short Stature, Vitiligo, Muscle Wasting and Achalasia. Arch Otolaryngol. 1971;93(2):194–197. doi:10.1001/archotol.1971.00770060280016
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