Biology Reference
In-Depth Information
6.2.1 Medical History
S.K.'s prenatal, birth, and early medical history are unremarkable. Past
medical history is significant only for asthma.
6.2.2 Audiologic Findings
S.K. has a profound bilateral sensorineural hearing loss with pure-tone
averages of 93 on the right and 100 on the left. She obtains no benefit from
amplification.
6.2.3 Family History
As shown in Figure 9.2, S.K. has one sister who is deaf, has blue eyes, and
patchy hypopigmentation of her skin. Her father is hearing, and her mother
has a profound unilateral hearing loss. Her mother has blue eyes and was
born with a white forelock. She was grey by age 30. Her brother and sister,
S.K.'s uncle and aunt, are hearing. The brother has blue eyes, and the sister,
brown. Their father was deaf in one ear, had green eyes, and was grey by
age 25. Their mother was hearing. S.K.'s father comes from a hearing family
in which everyone has brown eyes.
6.2.4 Physical Examination
Physical examination by the clinical geneticist revealed a young woman
with average height and stature. She had auburn hair with a few strands of
FIGURE 9.2. Family history of S.K., who has Waardenburg syndrome type II.
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