Several forms of partial albinism as well as of congenital perceptive deafness are known to be inherited. Conditions in which there is association of the two, like the Waardenburg-Klein syndrome, are associated also with other defects and are inherited as autosomal traits.1,2
This paper presents clinical, genetic, and laboratory investigations of a family in which all affected members were afflicted with both partial albinism and deaf mutism, with no other detectable defects. Moreover, this rare condition appears to be due to a single recessive gene located on the X-chromosome.
The Pedigree (Fig. 1) comprises 6 generations of a Jewish Sephardi family of Moroccan origin, living until recent years in Alexandria, Egypt. Fourteen members of the family, of generations III, IV, and V, were affected. Seven of them are alive and five of them live in Israel. All the affected individuals were males.
Clinical Syndrome and Laboratory Findings
ZIPRKOWSKI L, KRAKOWSKI A, ADAM A, COSTEFF H, SADE J. Partial Albinism and Deaf Mutism: Due to a Recessive Sex-Linked Gene. Arch Dermatol. 1962;86(4):530–539. doi:10.1001/archderm.1962.01590100144027
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