Nephrosis With Deafness And Urinary Tract And Digital Malformations

Braun and Bayer (1962) described a sibship of 12 containing 5 affected brothers. Two brothers, 5 sisters and both parents were normal. Parental consanguinity was denied. Whereas 2 of the affected sibs had urinary tract and digital anomalies, bifid uvula, nephrosis and deafness, 1 brother was deaf and had digital anomalies only, and 2 brothers had nephrosis only. The digital anomaly consisted of short and bifid distal phalanges of thumbs and big toes, for which no photographs or roentgenograms were published. Deafness was conductive, with no malformations of the middle ear bone (one of the affected sibs was autopsied). A female relative was known to be deaf. The author suggested either autosomal recessive or X-linked dominant inheritance (the mother had renal complications and hypertension during her pregnancies) of this syndrome, which was not previously described in the literature.