Biology Reference
In-Depth Information
may overlook them. Had the diagnosis of Waardenburg syndrome type II
been missed, one might have assumed the chance for S.K. to have deaf chil-
dren was greater or less than the actual chance of 25%. This case also
addresses the notion of the family, and not the individual, as the patient. A
diagnosis of a genetic condition in an individual may have profound health
or reproductive implications for other family members.
6.3 Case 3
T.R. (a 23-month-old Hispanic female) and her brother J.R. (a 4-month-old
Hispanic male) were referred for a genetic work-up by their audiologist
because of recent identification of sensorineural hearing loss.
6.3.1 Medical History
T.R. and J.R.'s prenatal, birth, and medical histories are unremarkable.
T.R.'s mother reported that T.R. has had an ophthalmological examination
and CT scan of the temporal bones since the hearing loss was diagnosed.
Both were reported to be within normal limits.
6.3.2 Audiologic Findings
Because of concerns about speech development, T.R. had an ABR at age
18 months, which indicated a sloping, moderate to severe sensorineural
hearing loss bilaterally. Follow-up sound field testing is consistent with the
ABR results. Pure-tone averages are 60 on the right and 55 on the left.
J.R. had an ABR at age 2 months because of his sister's hearing loss. A
bilateral, moderately severe sensorineural hearing loss is suspected. Both
children are being fitted for hearing aids.
6.3.3 Family History
As shown in Figure 9.3, all other family members, including the parents and
a half-brother, are hearing. The family history is unremarkable.
6.3.4 Physical Examination
T.R.'s physical examination revealed slight micrognathia, but was otherwise
unremarkable. J.R.'s physical examination was within normal limits with no
evidence of a genetic syndrome.
6.3.5 Clinical Diagnosis and Recommendations
A diagnosis of autosomal-recessive, nonsyndromic, sensorineural hearing
loss was made. Records from T.R.'s examinations following the diagnosis
of hearing loss were requested to confirm that they were within normal
limits.
