title: Inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance.
abstract: Six out of twenty descendants of a reportedly affected grandfather have congenital bilateral symmetrical and isolated subtotal atresia of the external auditory canal. Four of the six affected descendants have bilateral foot anomalies--two affected cousins having congenital vertical talus. All of the three affected boys in the third generation have increased interocular distance. Short fifth fingers, bilateral single transverse palmar creases, pyloric stenosis and congenital exotropia were found infrequently and are considered coincidental features. Apart from the atresia, oto-rhinolaryngologic examination, mental function, dermatoglyphics, IgA, kidney function and heart function of the affected descendants were all normal. The karyotype of four affected descendants examined was normal. An autosomal dominant inheritance with variable expressivity is suggested.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002648:Child; D003878:Dermatoglyphics; D004424:Ear Canal / Q000002:abnormalities*; D005123:Eye; D005260:Female; D005385:Fingers; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013577:Syndrome; D013628:Talus / Q000002:abnormalities*