The causes of profound deafness in childhood : a study of 3,535 individuals with severe hearing loss present at birth or of childhood onset / George R. Fraser.

  • Fraser, George R. (George Robert)
Date:
[1976], ©1976
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Licence: Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)

Credit: The causes of profound deafness in childhood : a study of 3,535 individuals with severe hearing loss present at birth or of childhood onset / George R. Fraser. Source: Wellcome Collection.

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    71. Male. A maternal great-aunt and great-uncle are deaf. The propositus has 2 brothers and 3 sisters with normal hearing. One of the brothers has unilateral partial heterochromia with a brown segment in otherwise blue eyes. Probable cases in the Oxfordshire and Berkshire survey; Adults 72. Female. There is no known deafness in the family. She has 3 brothers with normal hearing. She has lateral dystopia of the medial canthi and confluent eyebrows; a white streak first appeared in her hair at the age of twenty-one years. Subsequently, her hair rapidly became completely white. She has blue irides with a hypoplastic stroma, and her fundi are hypopigmented. There is no sign of involvement in other members of the family and she may represent a fresh mutation. 73. Male. There is no known deafness in the family. He has 3 sisters with normal hearing. A paternal uncle has complete blue-brown heterochromia. One of his 2 daughters had dystopia of the medial canthi, blue irides with a hypoplastic stroma, and hypopig mented fundi. The propositus has the same findings in the irides and fundi, but there is no dystopia. He married a woman with Pendred's syndrome and this family is described in Figure 5 of Fraser (1965a). 74. Male. He is an only child. He has lateral dystopia of the medial canthi, confluent eyebrows, blue irides with a hypoplastic stroma, and hypopigmented fundi. His hair showed a white streak in early life; it was of poor quality, and he subsequently lost most of it. His father has the same ocular findings, and his hair is sparse and entirely white; he has unilateral deafness. 75. Male. His parents were born deaf, but there is no further information available about the family. One eye was removed because of hypopion, and the lacrimal duct of the other eye needed operation because of blockage. His remaining eye shows lateral dystopia of the medial canthus, a blue iris with a hypoplastic stroma, and a hypopigmented fundus. He was born with a white forelock, and in early adult life his hair went entirely white. 76-78. These cases are related as half-sibs, all 3 having the same mother. They are III 32, III 33, and III 35 of Pedigree IX-15 which demonstrates the mating patterns among the deaf in the city of Reading (Berkshire). Their mother and 3 other half-sibs show various components of Waardenburg's syndrome, including mild or unilateral deafness, but are not profoundly deaf. Of the children of the 6 affected half-sibs, 3 are profoundly deaf, 23 4 are normal, and 4 show various components of Waardenburg's syndrome without being profoundly deaf. All the 14 identified cases in this family show lateral dystopia of the medial canthi, and 6 show heterochromia of the irides. Case 78 (III 35), in addition, has Sprengel's deformity of the shoulder and an affected half-sister with normal hearing (III 31) has a cleft palate. 79, 80. These cases are related as aunt and nephew. The aunt has lateral dystopia of the medial canthi and a prominent white forelock. She has 1 child with dystopia who is not deaf. Her brother (the father of case 80) also has lateral dystopia of the medial canthi and confluent eyebrows, but is not deaf. His deaf son (case 80) has complete blue-brown heterochromia, lateral dystopia of the medial canthi, and a streak of white hair. Case 80 is a member of a like-sexed dizygotic twin pair; the co-twin has normal hearing. The mother of case 79 (and grandmother of case 80) has lateral 23 These 3 deaf children are not included among the cases of the present survey, since they live outside the area of Oxfordshire and Berkshire.