TY - JOUR
T1 - Autosomal Recessive Deafness
T2 - Associated With Short Stature, Vitiligo, Muscle Wasting and Achalasia
AU - Rozycki, Danuta L.
AU - Ruben, Robert J.
AU - Rapin, Isabelle
AU - Spiro, Alfred J.
PY - 1971/2
Y1 - 1971/2
N2 - 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.
AB - 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.
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U2 - 10.1001/archotol.1971.00770060280016
DO - 10.1001/archotol.1971.00770060280016
M3 - Article
C2 - 5100941
AN - SCOPUS:0015014451
SN - 0003-9977
VL - 93
SP - 194
EP - 197
JO - Archives of Otolaryngology
JF - Archives of Otolaryngology
IS - 2
ER -