Genetic Hearing Loss With Preauricular Sinus and Branchiogenic Fistula Kwan H. Won, MD; Bob W.
Gayler, MD;
Hiroshi
\s=b\ A mother and her two children had
hearing loss associated with bilateral preauricular sinus and branchiogenic fistula. All six cochleas studied showed two turns rather than 2\m=1/2\turns. Complete studies including audiometry, tympanotomy findings, and temporal bone polytomography of these anomalies are reported. Similar cases reported in the English literature are reviewed. It seems that all previous cases may have had an abnormal cochlea as was seen in these cases.
(Arch Otolaryngol 103:676-680, 1977)
preauricular Isolated congenital abnormality sinus is
a com¬
and in most cases has no symptoms apart from occasional infection. In 1946, Ewing1 found preauricular sinuses in 0.9% of the British soldiers; in 1918, OnodiJ found a similar incidence in Germans. In parts of Africa and Asia, Aird,' in 1946, found the incidence in 5% to 10% of the population studied. Branchiogenic cyst anomalies are not uncommon and require excision mon
Accepted
for publication Dec 10, 1976. From the Department of Otolaryngology (Drs Won and Shimizu) and the Department of Radiology (Dr Gayler), the Johns Hopkins Medical Institutions, Baltimore.
Reprint requests to Department of Otolaryngology, The Johns Hopkins Hospital, Baltimore 21205 (Dr Won).
Shimizu, MD
because of frequent infection. Ac¬ cording to Bailey,' the first accurate description of the branchial apparatus in vertebrates was published by Rathke in 1835. Branchiogenic cyst and preauricular sinus can occur in the
individual, but its association with hearing loss is rare. We have reviewed all previous reports describ¬ ing these associations and none of the same
previous reports described complete temporal bone studies. Recently, we examined a mother and her two children. They all have hearing loss associated with preauric¬ ular sinus and brnachiogenic fistulas. Each of these patients had complete audiological studies, polytomography of the temporal bone, and both chil¬ dren had exploratory tympanotomies.
REPORT OF CASES
24-year-old mother of two children was first seen at the Hearing and Speech Center of the Johns Hopkins Med¬ ical Institutions in 1950 when she was 4 years old. She was a breech presentation delivered at home with no history of anoxia. Her parents deny any hearing loss in the family. Her parents were aware of some diffi¬ culty with her speech in the first year of life. She learned to say "mamma" about the third year of life. Apart from her hearing loss, her medical history is essenCase 1.—A
Downloaded From: http://archotol.jamanetwork.com/ by a University of Pennsylvania User on 06/18/2015
tially
normal. Her first voluntary pure tone threshold was obtained at the Hearing and Speech Center on July 16, 1963 and revealed considerably severe bilateral hearing im¬ pairment by air conduction. It is signifi¬ cant to note that the child indicated hearing 500 Hz at 35 dB and 1,000 Hz at 50 dB by bone conduction (Fig 1, top left). These referred to the right ear when the stimuli were presented to the left ear or midline. She had never been retested at this Center since the time she moved to Alaska until she brought her two chiildren to the Center in 1974. Pure tone thresholds revealed significant deterioration, but in¬ terestingly unmasked bone conduction at 500 Hz remained (Pig 1, top center). The presence of bone conduction may indicate that the mother also has middle ear defor¬
mity. Physical examination revealed no abnor¬ mal findings except that of bilateral preau¬ ricular sinuses and branchiogenic fistulas (Fig 1, top right). Case 2.—The 4-year, 10-month-old healthy boy and first child of the woman in case 1, whose pregnancy with and delivery of this child
were
uneventful, was referred
a chief complaint of limited speech output, first identified at the Well Baby Clinic of the County Health Department. Because the mother is deaf, she was incapable of making reliable obser¬ vations of her children's auditory function. Pure tone audiogram was obtained by a play audiometrie procedure. He had an average 60- to 70-dB loss bilateral mixed-
to
our
center with
o 2
20-
-E3-
¿ì. i
2000
1000
500
Frequency
Air Conduction
O—O-Right v
v.r.
:3__¿i_^l·
4000
soo
in Hz
tBone Conduction-, „
-[-Right
2000
F equency in Hz O-O-Ri 'ht C—-r> Air Conduction Bone Conduction
Right
.
Fig 1.—Top left and center, Audiogram of mother. Left, audiogram was obtained at age 13; center one was obtained at age 24. No masking was used for bone conduction. Top right, front view of case 1. Note bilateral preauricular sinus and branchiogenic fistulas. Bottom left, case 1, left side, frontal view, section through internal auditory canal and posterior portion of middle ear. Bottom right, case 1, lateral view, section through internal auditory canal with anterior niche for faciaj nerve canal. type of hearing deficiency (Fig 2, top left).
Although he had very limited language function, he was able to identify selected subjects at 75 dB in both ears. Speech reception threshold through bone conduc¬ tion, which was also estimated by object identification, supported pure tone bone conduction thresholds in the middle fre¬ quencies. He demonstrated his ability to understand some single words and short sentences through visual cue. Physical examination showed a healthy boy with bilateral preauricular sinuses and unilateral branchiogenic fistula (Fig 2, top
right).
11-month-old girl was referred to our center with her brother, the child in case 2. She was the second child of the woman in case 1, and had no abnormal prenatal or perinatal history. Pure tone audiogram showed her to have better hearing than that of her brother, case 2, and she showed no sign of sensory involvement (Fig 3, top left). Case 3.—This
3-year,
Speech reception thresholds estimated by object identification were compatible with pure tone thresholds obtained by both air and bone conduction. As reflected in hear¬ ing, her language and speech function were much better than that of her brother. In the Peabody Picture Vocabulary Test, she achieved the level of 2 years and 1 month of age in vocabulary status. On physical examination, she had slight¬ ly smaller cupped ears. She also had bilat¬ eral preauricular sinuses and branchiogen¬ ic fistulas (Fig 3, top right).
TOMOGRAPHIC FINDINGS OF THE TEMPORAL BONES External Auditory Canal
This canal is abnormal in all three subjects. In the subjects in cases 1 and 2 (Fig 1, bottom left and 2, bottom left), there is a slanted orientation of the external canal and the woman in case 1 has evidence of poor inferior
ring on the right side only. The child in case 3 has normal orientation of the external canal but an incomplete tympanic ring bilaterally with a larger defect on the right side (Fig 3, bottom left). Of the six attic spurs, only one is normal in appearance. The size of external canal is only slightly smaller than normal. Ossicles minor abnormalities were seen Only in the ossicles with problems of size and configuration being noted. Antral and Periantral
Regions
All of the six sides of the antral and periantral regions show a downward excursion of the petrous ridge, lateral to the arcuate eminence. This is very noticeable in the child in case 2, not quite as noticeable in the woman in
Downloaded From: http://archotol.jamanetwork.com/ by a University of Pennsylvania User on 06/18/2015
_¿^
500
1000
2000
Frequency in
O-O- Right Air Conduction _ . Lefe
0000
4000
Hz C- -
Right BoneConduction-,....-,.^
Fig 2—Top left, Audiogram of boy. He was able to identify familiar objects at 70 dB in right ear and at 75 dB in left ear. Approximate speech reception threshold through bone (object identification) was 35 dB. Top right, Lateral view of case 2. Note preauricular sinus and branchiogenic fistula. Bottom left, case 2, frontal view showing external canal, middle ear, cochlea, and longitudinal appearance of anterior niche for facial nerve canal. Bottom right, case 2, lateral view through internal auditory canal showing small anterior niche of facial
nerve.
Fig 3.—Top left, Audiogram of girl. Thresh¬ were obtained by play audiometrie procedure. She was able to identify familiar objects at 40 dB in right ear and at 50 dB in left ear. Top right, Front view of case 3. Bilateral preauricular sinuses and branchiogenic fistuas. Bottom left, case 3, lateral view through external auditory canal near level of tympanic membrane shows incomplete tympanic ring inferiorly. Bottom right, case 3, lateral view through internal canal showing anterior niche for olds
1000 Air Conduction
O-O_v_
2000
Frequency in Hz
Right ,-7.
4000
SODO
[—-[-Right Bone Conduction,..-., .
facial
Downloaded From: http://archotol.jamanetwork.com/ by a University of Pennsylvania User on 06/18/2015
nerve.
Summary
of Previous
of Hearing Loss Sensorineural
Type
Source Fourman and Fourman*
Hall and Zimmer'
Conductive
Wildervanck*
Conductive
McLaurin et al'
Conductive
Reports Remarks Members of 74 in a family; 17 preau¬ ricular pits: 12 hearing loss; 1 nor¬ mal hearing; 4 branchial cyst; hear¬ ing loss started at 20s 2 cases of preauricular pits communi¬ cating into middle ear, associated with branchial cleft and malformed auricle A case with flopped and low im¬ planted ear with preauricular ap¬
pendage
7 cases of
preauricular pits of 18
members; 6 had branchial fistula; 4 had malformed auricle
case
1, and only moderate in the child
3. This downward excursion is frequently seen in congenital abnor¬ malities of the ear. The pneumatiza¬ tion was only fair in the woman in case 1 and poor for the children in cases 2 and 3. in
case
Middle Ear Cleft The width was normal in all six ears, but the relationship of middle ear to the external canal was abnor¬ mal bilaterally in the child in case 2.
Cochlea
The cochlea was abnormally small in both ears in all three and it was very similar in appearance. This decrease in size appears to be fairly uniform with the basal turn being small as well as the other turns. There appears to be no more than two turns rather than 2V2 turns. Semicircular and Internal Auditory Canals There are minimal changes of orien¬ tation as noted in the semicircular canals. The internal auditory canals are short and oval in configuration, and in three of the six ears, the height was at upper limits of normal. The anterior wall of the internal canal has a marked anterior niche, and a sepa¬ rate compartment for the facial nerve is formed more medially than usual. After making its last curve, the facial nerve canal appears to be reasonably normal. This is similar in all six ears.
Family Investigation The mother, case 1, is the tenth of 11 siblings and none of the others suffer
from hearing impairments. Three of these siblings were personally exam¬ ined for possible branchiogenic fistu¬ las or any occult preauricular sinus, but they had no anomalies. According to the grandmother of these children, there has been no family history of hearing loss. Audiograms of three siblings of the woman in case 1 were normal. The father of the children in cases 2 and 3 had normal results on
audiogram. COMMENT
Embryological relations in the for¬ auricle, middle ear, and preauricular sinus are so intimately mation of
related that one would expect various combinations of anomalies in the same individual. The occurrence of branchial fistulas or cysts in members of the same family has been docu¬ mented by many authors. However, association of hearing loss with these anomalies is rare. According to Wildervanck,"' Heusinger in Germany described some cases of the same combination in 1864, but his description was not clear. Paget" quotes a case of Holmes in 1878; they suspected deafness in their description. In 1927, Precechtel7 stated that branchial fistula and preauricular sinus may occur in one individual. To our knowledge, the first descrip¬ tion of any cases similar to ours was reported by Fourman and Fourman8 in 1955. In their report, 17 of the 21 affected had unilateral or bilateral preauricular sinuses; 16 had hearing loss, and four had unilateral or bilat¬ eral branchial fistulas. Sixteen of the
21 affected had transmission patterns of dominant genes. Most of their patients' hearing started to deterio¬ rate at approximately 20 years of age. They assumed that it was caused by cochlear malformation. Hall and Zimmer" in 1958, described two patients with an association of hearing loss, preauricular sinus, and branchial fistula. One of these pa¬ tients had otorrhea, acoustic trauma of the left ear, and perforated tympanic membrane of the right ear for 11 years. Detailed audiometrie studies were not mentioned. At sur¬ gery they found the preauricular sinus was communicated into the middle ear causing infection, and they noted "ru¬ dimentary ossicles." Their second case was similar to the first. Because the subject had an 11-year history of otorrhea with tympanic membrane perforation in this ear, rudimentary ossicles probably were caused by chronic infection rather than a con¬ genital anomaly. The ossicle on the opposite side was not described. In 1961, Wildervanck7' described a child who had bilateral conductive hearing loss of 60 dB. This boy had flopped ears, low implantation, and preauricular appendages. He pre¬ sumed that this child's hearing loss was the result of abnormal ossicles,
possibly ankylosis.
In 1966, McLaurin et al10 described
a
family with a syndrome characterized by the presence of flop ears, preauric¬ ular appendages, branchial fistula, and conductive hearing loss. Of the 18 family members that were studied,
had at least three of the four manifestations. Six of these seven had conductive hearing loss. McLaurin and his associates presumed hearing loss was based on some malformation or malfunction of ossicles. These pre¬ vious reports are summarized in the Table. In 1969, Konigsmark11 reviewed hereditary deafness in man. In his extensive review, he classified the Fourman and Fourman's8 cases under "Dominant preauricular pits and neu¬ ral hearing loss." However, he clas¬ sified the cases of Wildervanck7' and McLaurin et al1" under "Dominant ear malformation and conductive hearing loss." seven
Downloaded From: http://archotol.jamanetwork.com/ by a University of Pennsylvania User on 06/18/2015
In reviewing all previously reported similar cases, it seems that they can be classified under the same category. Except for Fourman and Fourman's cases, all of these anomalies were associated with conductive hearing loss. All the authors presumed that it was probably caused by ossicular malformation or malfunction or both. In our studies of these six ears, the constant abnormality was in the coch¬ lea not in the ossicles. All six ears had an abnormally small cochlea, perhaps with two turns rather than 2% turns. During exploratory tympanotomies in the two ears, we found short, stubby ossicles showing minor abnormalities in size and configuration. The signifi¬ cant finding in the two ears that we explored is the flat promontory. This
finding is consistent with the roent¬ genographic finding. It is interesting that the mother, case 1, had a hearing loss similar to
that seen in her children when she herself was examined in 1963. An audiogram in 1974 showed further profound hearing loss. It would be interesting to follow these children for the next 15 to 20 years to see if their hearing becomes progressively worse as in their mother's case. In Fourman and Fourman's8 cases, they stated that with the subjects they studied hearing was normal until they reached their 20s. Although they did not report any audiograms, one wonders if their subjects hearing was impaired earlier in their life and then became progressively worse during their 20s.
Although the association of bran¬ chiogenic fistula, preauricular sinus, and various degrees of auricular anomalies along with hearing loss is rare, it is suggested that anyone who
has an association of branchial fistula and preauricular pits should have an audiogram and should perhaps inves¬ tigate their family. It seems that this association may occur in various penetrations in their
offspring.
In
reviewing previous
re¬
ports, all these cases (Table) may represent the same syndrome with
minor variations. It is probable that the subject in all of the previously reported cases may have had an abnormal cochlea as seen in the subjects in our cases. some
References 1. Ewing MR: Congenital sinuses of the external ear. J Laryngol Otol 61:18-23, 1946. 2. Onodi L: Ueber Kongenitale Ohrfisteln. Arch Ohren Nasen U Kehlkopfh 128-136, 1918. 3. Aird I: Ear-pit: Congenital aural and preauricular fistula. Edinb Med J 53:498-507, 1946. 4. Bailey H: The clinical aspects of branchial cleft cyst. Br J Surg 10:565-572, 1922-23. 5. Wildervanck LS: Hereditary malformations of the ear in three generations. Acta Otolaryngol 54:553-560, 1961.
6. Paget J: Cases of branchial fistulae in external ears. Rev Med Chir Soc London 61:41, 1878. 7. Precechtel A: Pedigree of anomalies in first and second branchial cleft, inherited according to laws of Mendel, and contribution to technique of extirpation of congenital lateral fistulae colli. Acta Otolaryngol 11:23-30, 1927. 8. Fourman P, Fourman J: Hereditary deafness in family with ear-pits (fistula auris congenita). Br Med J 2:1354-1356, 1955.
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9. Hall JG, Zimmer J: Congenital communicatfistulas: Diagnosis, complications and treatment. Acta Otolaryngol 49:213-220, 1958. 10. McLaurin JW, Kloepfer HW, Laguaite JK, et al: Hereditary branchial anomalies and associated hearing impairment. Laryngoscope 76:1277-1288, 1966. 11. Konigsmark BW: Hereditary deafness in man. N Engl J Med 13:713-720, 1969.
ing
Gayler, MD;
Hiroshi
\s=b\ A mother and her two children had
hearing loss associated with bilateral preauricular sinus and branchiogenic fistula. All six cochleas studied showed two turns rather than 2\m=1/2\turns. Complete studies including audiometry, tympanotomy findings, and temporal bone polytomography of these anomalies are reported. Similar cases reported in the English literature are reviewed. It seems that all previous cases may have had an abnormal cochlea as was seen in these cases.
(Arch Otolaryngol 103:676-680, 1977)
preauricular Isolated congenital abnormality sinus is
a com¬
and in most cases has no symptoms apart from occasional infection. In 1946, Ewing1 found preauricular sinuses in 0.9% of the British soldiers; in 1918, OnodiJ found a similar incidence in Germans. In parts of Africa and Asia, Aird,' in 1946, found the incidence in 5% to 10% of the population studied. Branchiogenic cyst anomalies are not uncommon and require excision mon
Accepted
for publication Dec 10, 1976. From the Department of Otolaryngology (Drs Won and Shimizu) and the Department of Radiology (Dr Gayler), the Johns Hopkins Medical Institutions, Baltimore.
Reprint requests to Department of Otolaryngology, The Johns Hopkins Hospital, Baltimore 21205 (Dr Won).
Shimizu, MD
because of frequent infection. Ac¬ cording to Bailey,' the first accurate description of the branchial apparatus in vertebrates was published by Rathke in 1835. Branchiogenic cyst and preauricular sinus can occur in the
individual, but its association with hearing loss is rare. We have reviewed all previous reports describ¬ ing these associations and none of the same
previous reports described complete temporal bone studies. Recently, we examined a mother and her two children. They all have hearing loss associated with preauric¬ ular sinus and brnachiogenic fistulas. Each of these patients had complete audiological studies, polytomography of the temporal bone, and both chil¬ dren had exploratory tympanotomies.
REPORT OF CASES
24-year-old mother of two children was first seen at the Hearing and Speech Center of the Johns Hopkins Med¬ ical Institutions in 1950 when she was 4 years old. She was a breech presentation delivered at home with no history of anoxia. Her parents deny any hearing loss in the family. Her parents were aware of some diffi¬ culty with her speech in the first year of life. She learned to say "mamma" about the third year of life. Apart from her hearing loss, her medical history is essenCase 1.—A
Downloaded From: http://archotol.jamanetwork.com/ by a University of Pennsylvania User on 06/18/2015
tially
normal. Her first voluntary pure tone threshold was obtained at the Hearing and Speech Center on July 16, 1963 and revealed considerably severe bilateral hearing im¬ pairment by air conduction. It is signifi¬ cant to note that the child indicated hearing 500 Hz at 35 dB and 1,000 Hz at 50 dB by bone conduction (Fig 1, top left). These referred to the right ear when the stimuli were presented to the left ear or midline. She had never been retested at this Center since the time she moved to Alaska until she brought her two chiildren to the Center in 1974. Pure tone thresholds revealed significant deterioration, but in¬ terestingly unmasked bone conduction at 500 Hz remained (Pig 1, top center). The presence of bone conduction may indicate that the mother also has middle ear defor¬
mity. Physical examination revealed no abnor¬ mal findings except that of bilateral preau¬ ricular sinuses and branchiogenic fistulas (Fig 1, top right). Case 2.—The 4-year, 10-month-old healthy boy and first child of the woman in case 1, whose pregnancy with and delivery of this child
were
uneventful, was referred
a chief complaint of limited speech output, first identified at the Well Baby Clinic of the County Health Department. Because the mother is deaf, she was incapable of making reliable obser¬ vations of her children's auditory function. Pure tone audiogram was obtained by a play audiometrie procedure. He had an average 60- to 70-dB loss bilateral mixed-
to
our
center with
o 2
20-
-E3-
¿ì. i
2000
1000
500
Frequency
Air Conduction
O—O-Right v
v.r.
:3__¿i_^l·
4000
soo
in Hz
tBone Conduction-, „
-[-Right
2000
F equency in Hz O-O-Ri 'ht C—-r> Air Conduction Bone Conduction
Right
.
Fig 1.—Top left and center, Audiogram of mother. Left, audiogram was obtained at age 13; center one was obtained at age 24. No masking was used for bone conduction. Top right, front view of case 1. Note bilateral preauricular sinus and branchiogenic fistulas. Bottom left, case 1, left side, frontal view, section through internal auditory canal and posterior portion of middle ear. Bottom right, case 1, lateral view, section through internal auditory canal with anterior niche for faciaj nerve canal. type of hearing deficiency (Fig 2, top left).
Although he had very limited language function, he was able to identify selected subjects at 75 dB in both ears. Speech reception threshold through bone conduc¬ tion, which was also estimated by object identification, supported pure tone bone conduction thresholds in the middle fre¬ quencies. He demonstrated his ability to understand some single words and short sentences through visual cue. Physical examination showed a healthy boy with bilateral preauricular sinuses and unilateral branchiogenic fistula (Fig 2, top
right).
11-month-old girl was referred to our center with her brother, the child in case 2. She was the second child of the woman in case 1, and had no abnormal prenatal or perinatal history. Pure tone audiogram showed her to have better hearing than that of her brother, case 2, and she showed no sign of sensory involvement (Fig 3, top left). Case 3.—This
3-year,
Speech reception thresholds estimated by object identification were compatible with pure tone thresholds obtained by both air and bone conduction. As reflected in hear¬ ing, her language and speech function were much better than that of her brother. In the Peabody Picture Vocabulary Test, she achieved the level of 2 years and 1 month of age in vocabulary status. On physical examination, she had slight¬ ly smaller cupped ears. She also had bilat¬ eral preauricular sinuses and branchiogen¬ ic fistulas (Fig 3, top right).
TOMOGRAPHIC FINDINGS OF THE TEMPORAL BONES External Auditory Canal
This canal is abnormal in all three subjects. In the subjects in cases 1 and 2 (Fig 1, bottom left and 2, bottom left), there is a slanted orientation of the external canal and the woman in case 1 has evidence of poor inferior
ring on the right side only. The child in case 3 has normal orientation of the external canal but an incomplete tympanic ring bilaterally with a larger defect on the right side (Fig 3, bottom left). Of the six attic spurs, only one is normal in appearance. The size of external canal is only slightly smaller than normal. Ossicles minor abnormalities were seen Only in the ossicles with problems of size and configuration being noted. Antral and Periantral
Regions
All of the six sides of the antral and periantral regions show a downward excursion of the petrous ridge, lateral to the arcuate eminence. This is very noticeable in the child in case 2, not quite as noticeable in the woman in
Downloaded From: http://archotol.jamanetwork.com/ by a University of Pennsylvania User on 06/18/2015
_¿^
500
1000
2000
Frequency in
O-O- Right Air Conduction _ . Lefe
0000
4000
Hz C- -
Right BoneConduction-,....-,.^
Fig 2—Top left, Audiogram of boy. He was able to identify familiar objects at 70 dB in right ear and at 75 dB in left ear. Approximate speech reception threshold through bone (object identification) was 35 dB. Top right, Lateral view of case 2. Note preauricular sinus and branchiogenic fistula. Bottom left, case 2, frontal view showing external canal, middle ear, cochlea, and longitudinal appearance of anterior niche for facial nerve canal. Bottom right, case 2, lateral view through internal auditory canal showing small anterior niche of facial
nerve.
Fig 3.—Top left, Audiogram of girl. Thresh¬ were obtained by play audiometrie procedure. She was able to identify familiar objects at 40 dB in right ear and at 50 dB in left ear. Top right, Front view of case 3. Bilateral preauricular sinuses and branchiogenic fistuas. Bottom left, case 3, lateral view through external auditory canal near level of tympanic membrane shows incomplete tympanic ring inferiorly. Bottom right, case 3, lateral view through internal canal showing anterior niche for olds
1000 Air Conduction
O-O_v_
2000
Frequency in Hz
Right ,-7.
4000
SODO
[—-[-Right Bone Conduction,..-., .
facial
Downloaded From: http://archotol.jamanetwork.com/ by a University of Pennsylvania User on 06/18/2015
nerve.
Summary
of Previous
of Hearing Loss Sensorineural
Type
Source Fourman and Fourman*
Hall and Zimmer'
Conductive
Wildervanck*
Conductive
McLaurin et al'
Conductive
Reports Remarks Members of 74 in a family; 17 preau¬ ricular pits: 12 hearing loss; 1 nor¬ mal hearing; 4 branchial cyst; hear¬ ing loss started at 20s 2 cases of preauricular pits communi¬ cating into middle ear, associated with branchial cleft and malformed auricle A case with flopped and low im¬ planted ear with preauricular ap¬
pendage
7 cases of
preauricular pits of 18
members; 6 had branchial fistula; 4 had malformed auricle
case
1, and only moderate in the child
3. This downward excursion is frequently seen in congenital abnor¬ malities of the ear. The pneumatiza¬ tion was only fair in the woman in case 1 and poor for the children in cases 2 and 3. in
case
Middle Ear Cleft The width was normal in all six ears, but the relationship of middle ear to the external canal was abnor¬ mal bilaterally in the child in case 2.
Cochlea
The cochlea was abnormally small in both ears in all three and it was very similar in appearance. This decrease in size appears to be fairly uniform with the basal turn being small as well as the other turns. There appears to be no more than two turns rather than 2V2 turns. Semicircular and Internal Auditory Canals There are minimal changes of orien¬ tation as noted in the semicircular canals. The internal auditory canals are short and oval in configuration, and in three of the six ears, the height was at upper limits of normal. The anterior wall of the internal canal has a marked anterior niche, and a sepa¬ rate compartment for the facial nerve is formed more medially than usual. After making its last curve, the facial nerve canal appears to be reasonably normal. This is similar in all six ears.
Family Investigation The mother, case 1, is the tenth of 11 siblings and none of the others suffer
from hearing impairments. Three of these siblings were personally exam¬ ined for possible branchiogenic fistu¬ las or any occult preauricular sinus, but they had no anomalies. According to the grandmother of these children, there has been no family history of hearing loss. Audiograms of three siblings of the woman in case 1 were normal. The father of the children in cases 2 and 3 had normal results on
audiogram. COMMENT
Embryological relations in the for¬ auricle, middle ear, and preauricular sinus are so intimately mation of
related that one would expect various combinations of anomalies in the same individual. The occurrence of branchial fistulas or cysts in members of the same family has been docu¬ mented by many authors. However, association of hearing loss with these anomalies is rare. According to Wildervanck,"' Heusinger in Germany described some cases of the same combination in 1864, but his description was not clear. Paget" quotes a case of Holmes in 1878; they suspected deafness in their description. In 1927, Precechtel7 stated that branchial fistula and preauricular sinus may occur in one individual. To our knowledge, the first descrip¬ tion of any cases similar to ours was reported by Fourman and Fourman8 in 1955. In their report, 17 of the 21 affected had unilateral or bilateral preauricular sinuses; 16 had hearing loss, and four had unilateral or bilat¬ eral branchial fistulas. Sixteen of the
21 affected had transmission patterns of dominant genes. Most of their patients' hearing started to deterio¬ rate at approximately 20 years of age. They assumed that it was caused by cochlear malformation. Hall and Zimmer" in 1958, described two patients with an association of hearing loss, preauricular sinus, and branchial fistula. One of these pa¬ tients had otorrhea, acoustic trauma of the left ear, and perforated tympanic membrane of the right ear for 11 years. Detailed audiometrie studies were not mentioned. At sur¬ gery they found the preauricular sinus was communicated into the middle ear causing infection, and they noted "ru¬ dimentary ossicles." Their second case was similar to the first. Because the subject had an 11-year history of otorrhea with tympanic membrane perforation in this ear, rudimentary ossicles probably were caused by chronic infection rather than a con¬ genital anomaly. The ossicle on the opposite side was not described. In 1961, Wildervanck7' described a child who had bilateral conductive hearing loss of 60 dB. This boy had flopped ears, low implantation, and preauricular appendages. He pre¬ sumed that this child's hearing loss was the result of abnormal ossicles,
possibly ankylosis.
In 1966, McLaurin et al10 described
a
family with a syndrome characterized by the presence of flop ears, preauric¬ ular appendages, branchial fistula, and conductive hearing loss. Of the 18 family members that were studied,
had at least three of the four manifestations. Six of these seven had conductive hearing loss. McLaurin and his associates presumed hearing loss was based on some malformation or malfunction of ossicles. These pre¬ vious reports are summarized in the Table. In 1969, Konigsmark11 reviewed hereditary deafness in man. In his extensive review, he classified the Fourman and Fourman's8 cases under "Dominant preauricular pits and neu¬ ral hearing loss." However, he clas¬ sified the cases of Wildervanck7' and McLaurin et al1" under "Dominant ear malformation and conductive hearing loss." seven
Downloaded From: http://archotol.jamanetwork.com/ by a University of Pennsylvania User on 06/18/2015
In reviewing all previously reported similar cases, it seems that they can be classified under the same category. Except for Fourman and Fourman's cases, all of these anomalies were associated with conductive hearing loss. All the authors presumed that it was probably caused by ossicular malformation or malfunction or both. In our studies of these six ears, the constant abnormality was in the coch¬ lea not in the ossicles. All six ears had an abnormally small cochlea, perhaps with two turns rather than 2% turns. During exploratory tympanotomies in the two ears, we found short, stubby ossicles showing minor abnormalities in size and configuration. The signifi¬ cant finding in the two ears that we explored is the flat promontory. This
finding is consistent with the roent¬ genographic finding. It is interesting that the mother, case 1, had a hearing loss similar to
that seen in her children when she herself was examined in 1963. An audiogram in 1974 showed further profound hearing loss. It would be interesting to follow these children for the next 15 to 20 years to see if their hearing becomes progressively worse as in their mother's case. In Fourman and Fourman's8 cases, they stated that with the subjects they studied hearing was normal until they reached their 20s. Although they did not report any audiograms, one wonders if their subjects hearing was impaired earlier in their life and then became progressively worse during their 20s.
Although the association of bran¬ chiogenic fistula, preauricular sinus, and various degrees of auricular anomalies along with hearing loss is rare, it is suggested that anyone who
has an association of branchial fistula and preauricular pits should have an audiogram and should perhaps inves¬ tigate their family. It seems that this association may occur in various penetrations in their
offspring.
In
reviewing previous
re¬
ports, all these cases (Table) may represent the same syndrome with
minor variations. It is probable that the subject in all of the previously reported cases may have had an abnormal cochlea as seen in the subjects in our cases. some
References 1. Ewing MR: Congenital sinuses of the external ear. J Laryngol Otol 61:18-23, 1946. 2. Onodi L: Ueber Kongenitale Ohrfisteln. Arch Ohren Nasen U Kehlkopfh 128-136, 1918. 3. Aird I: Ear-pit: Congenital aural and preauricular fistula. Edinb Med J 53:498-507, 1946. 4. Bailey H: The clinical aspects of branchial cleft cyst. Br J Surg 10:565-572, 1922-23. 5. Wildervanck LS: Hereditary malformations of the ear in three generations. Acta Otolaryngol 54:553-560, 1961.
6. Paget J: Cases of branchial fistulae in external ears. Rev Med Chir Soc London 61:41, 1878. 7. Precechtel A: Pedigree of anomalies in first and second branchial cleft, inherited according to laws of Mendel, and contribution to technique of extirpation of congenital lateral fistulae colli. Acta Otolaryngol 11:23-30, 1927. 8. Fourman P, Fourman J: Hereditary deafness in family with ear-pits (fistula auris congenita). Br Med J 2:1354-1356, 1955.
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9. Hall JG, Zimmer J: Congenital communicatfistulas: Diagnosis, complications and treatment. Acta Otolaryngol 49:213-220, 1958. 10. McLaurin JW, Kloepfer HW, Laguaite JK, et al: Hereditary branchial anomalies and associated hearing impairment. Laryngoscope 76:1277-1288, 1966. 11. Konigsmark BW: Hereditary deafness in man. N Engl J Med 13:713-720, 1969.
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