The Journal of Craniofacial Surgery • Volume 26, Number 1, January 2015
Brief Clinical Studies
However, the major advantages of this technique are no need of secondary grafting and waiting for secondary healing, so the patient's comfort has been increased. In conclusion, there is no certain surgical treatment of severe rhinophyma as a variety of surgical techniques have been reported. We obtained a good esthetic result with this gull-wing incision in a patient with severe rhinophyma and wanted to share it to the plastic surgery community to provide a small contribution.
REFERENCES 1. Rebora A. Rosacea. J Invest Dermatol 1987;88:56–60 2. Rohrich RJ, Griffin JR, Adams WP Jr. Rhinophyma: review and update. Plast Reconstr Surg 2002;110:860–869 3. Redett RJ, Manson PN, Goldberg N, et al. Methods and results of rhinophyma treatment. Plast Reconstr Surg 2001;107:1115–1123 4. Diffenbach JF. Die operative chirurgie. Leipzig: Brockhaus, 1845:373 5. Fisher WJ. Rhinophyma: its surgical treatment. Plast Reconstr Surg 1970;45:466–470 6. Odou BL, Odou ER. Rhinophyma. Am J Surg 1961;102:3–16 7. Sadick H, Goepel B, Bersch C, et al. Rhinophyma: diagnosis and treatment options for a disfiguring tumor of the nose. Ann Plast Surg 2008;61:114–120
Branchiootorenal and Branchiooculofacial Syndrome Jovana Ječmenica, MD, Aleksandra Bajec-Opančina, MD Introduction: Branchiootorenal syndrome (BOR) is an autosomal dominant disorder. One of very similar syndromes is branchiooculofacial syndrome (BOF), with incomplete penetrance and variable expression. The overlap between BOR syndrome and BOF syndrome includes external ear abnormalities with hearing loss, lachrymal duct obstruction, branchial cleft remnants, and renal or urethral defects. The relationship between these 2 syndromes is still unclear. Case Outline: We present 2 patients with these rare syndromes: a girl who has fulfilled the diagnostic criteria for BOR syndrome and a boy who has more than fulfilled the criteria for BOF syndrome. The diagnosis of BOF syndrome was performed only on the basis of clinical findings, without genetic confirmation. Conclusions: Differential diagnosis between these similar syndromes with phenotypic variation is delicate especially without genetic examinations. Key Words: Branchial arch, renal, syndrome From the Department of ENT, Unit for Audiology and Neurotology, Institute for Health Protection of Mother and Child of Serbia “Dr Vukan Cupic,” Belgrade, Serbia. Received June 11, 2014. Accepted for publication July 31, 2014. Address correspondence and reprint requests to Jovana Ječmenica, MD, Department of ENT, Unit for Audiology and Neurotology, Institute for Health Protection of Mother and Child of Serbia “Dr Vukan Cupic,” Belgrade, Serbia; Email: [email protected] The authors report no conflicts of interest. Copyright © 2014 by Mutaz B. Habal, MD ISSN: 1049-2275 DOI: 10.1097/SCS.0000000000001268
e30
B
ranchiootorenal syndrome (BOR syndrome, branchiootorenal dysplasia, Melnick-Fraser syndrome) is an autosomal dominant disorder with branchial, otologic, and renal manifestations. The disease is represented by various phenotypic expressions. The clinical features of BOR include malformations of the external, middle, or inner ear with associated hearing loss, branchial cleft sinuses, cervical fistulas, and renal anomalies, which range from mild hypoplasia to bilateral renal agenesis.1 There are several types of malformations of the branchial arches in BOR, including cupping of the outer ear, ear pits, and tags of skin in front of the ear as well as cysts or fistulas on the neck.2,3 The severity of hearing loss ranges from mild to profound and can be conductive, sensorineural, and mixed. In addition to external auditory canal stenosis, atresia occurs. Middle ear anomalies can include malformation, malposition, dislocation, or fixation of the ossicles, as well as reduction in size or malformation of the middle ear cavity. Inner ear malformations include cochlear hypoplasia, enlargement of the cochlear and vestibular aqueducts, and hypoplasia of the lateral semicircular canal.4,5 The phenotypic expression can vary significantly between and within affected families. Renal ultrasonography or intravenous pyelography is essential to determine the extent of renal involvement.6 Older reports indicate that BOR has a prevalence of 1 in 40,000 people and is responsible for approximately 2% of profound childhood deafness.4 Some cases of BOR syndrome are caused by mutations in EYA1 on chromosome 8q, whereas other cases have been linked to an as yet unidentified gene on 1q31.1 The disease is caused by mutations in the EYA1 gene, which has 16 exons.
Differential Diagnostic Considerations There are few very similar syndromes such as branchiootic syndrome, branchiootoureteral syndrome, branchiooculofacial syndrome, and otofaciocervical syndrome.4 Branchiooculofacial syndrome is a very rare autosomal dominant disorder with incomplete penetration and variable expression, with phenotypic variation ranging from mild to severe forms, involving eye, ear, oral, and craniofacial structures. Branchial cleft sinuses, nasolacrimal duct obstruction, conductive hearing loss, abnormal upper lip with pseudocleft, as well as low-set and malformed ears. Additional findings include low birth weight; growth retardation; aplasia cutis congenita; cleft palate; malformed, asymmetric nose with broad bridge and flattened tip; microphthalmia; prematurely gray hair; as well as mild mental retardation to normal intelligence. In addition, renal aplasia, hypoplasia, or dysplasia may occur.4,7,8 During 2008, TFAPA2A gene was found on 6p24–p25, which represents the background of this syndrome. Branchial anomalies, preauricular pits, and hearing loss have been described in the absence of renal dysplasia as a branchio-oto syndrome, which may constitute a distinct entity.7 The overlap between BOR syndrome and BOF syndrome includes external ear abnormalities with hearing loss, lacrimal duct obstruction, branchial cleft remnants, and renal or ureteral defects. The relationship between these 2 syndromes is still unclear. Contiguous gene deletion phenomenon, different mutations in the same gene, or distinct entities have all been proposed.9,10 The wide spectrum of phenotypic findings associated with EYA1 mutations can make the diagnosis of BOR syndrome difficult. An additional problem is genetic heterogeneity: mutations in other genes cause a similar phenotype.9,11–13
CASE OUTLINE The aim of this case report was to present 2 patients from our clinical practice and make some differential diagnostic considerations. © 2014 Mutaz B. Habal, MD
Copyright © 2014 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited.
The Journal of Craniofacial Surgery • Volume 26, Number 1, January 2015
We are presenting 2 patients with these rare syndromes. First, we present a 4-year-old girl with BOR syndrome who has unilateral renal hypoplasia, bilateral cervical branchial cysts, and a hearing loss. Intrautero presence of unilateral renal hypoplasia was noticed. Lateral fistula on the left side of the neck was operated. Preauricular pits were present at both sides. The nose was without pathologic findings. Otoscopic findings were regular bilaterally. The throat showed velopharyngeal insufficiency without having signs of submucous cleft palate. Tympanogram was type “A's” on both sides. Acoustic reflex was absent bilaterally at all probe intensities. Transitory otoacoustic emissions were not registered. Properly formed responses of brain auditory evoked potentials were found at intensity level of 70 dB bilaterally. Liminary tonal audiometry showed a conductive hearing loss bilaterally with pure tone average of approximately 75 dB for the air conduction. Caloric test showed regular function of both labyrinths. We avoided computed tomographic scan because the parents were not interested in doing otosurgery. Genetic investigations in the United Kingdom have confirmed the presence of BOR syndrome. She had achieved regularly milestones except the development of her speech, which was delayed and nonintelligible for the unknown listeners. Her intelligence and growth were normal at the age of 4 years. Family history was negative for hearing loss, neck fistula, and kidney problems. She has a younger healthy brother. The girl has started with auditory training. She is using hearing aids for air conduction. Her speech is becoming better, but intelligibility is still not satisfying. We also present a boy with BOF syndrome who has the following characteristic features: bilateral cervical branchial cysts; preauricular and postauricular pits; submucous cleft palate; bilateral lacrimal duct obstruction and bilateral low-set small, malformed ears; facial asymmetry; microphthalmia; malformed nose with broad bridge and flattened tip; colobomas, as well as aortal malformation (arcus aortae dexter). His intelligence and growth were mildly delayed at the age of 5 years. The head was considerably bigger and has a characteristic shape of “tower skull.” On the left side of the neck was a scar of the operation and fistula was still present on the right side. The external auditory channel was steep and stenotic, but the eardrum was with normal anatomic characteristics. Tympanogram was type “A's” on both sides. Acoustic reflex was absent bilaterally at all probe tone intensities. Transitory otoacoustic emissions were not registered. Liminary tonal audiometry showed a conductive hearing loss bilaterally with pure tone average of approximately 75 dB for the air conduction. Caloric test showed regular function of both labyrinths. Computed tomographic scan of temporal bones showed stenosis of external auditory channel and minor malformations of the ossicles. The development of his speech was delayed; his speech was nonintelligible for the unknown listeners also because of rhinolalia apperta, but today, when he is 11 years old, his speech is completely satisfactory. In his family history, there are data about his father having blocked tear duct, lateral neck fistulas, low-positioned ears, and mild conductive hearing loss. The boy has auditory training with hearing aids, and he has achieved very satisfactory speech understanding and considerably intelligible speech in the last several years. Now, he is going to a regular elementary school and achieving program.
Brief Clinical Studies
diagnosis of BOF syndrome. The diagnosis was performed only on the basis of clinical findings, without genetic confirmation. Differential diagnosis between these similar syndromes is delicate even with genetic examinations. The BOF, BOR, and branchiootic syndromes are caused by mutations in different genes. The pathogenetic mechanisms for overlapping and syndrome-specific symptoms are still unknown. Rare cases of hereditary syndromes with hearing problems provide more knowledge about the structure of hereditary hypoacusis forms in the population. The syndromal forms reflect a complex genetic basis of the processes of sound perception.
REFERENCES 1. Patrick E, Brookhouser MD. F.A.C.S. diseases of the inner ear and sensorineural hearing loss. In: Bluestone CD, ed. Pediatric Otolaryngology. 4th ed. Philadelphia: Elsevier Science, 2003: 779–808 2. Miura M, Sando I, Thompson S. Congenital anomalies of the external and middle ears. In: Bluestone CD, ed. Pediatric Otolaryngology. 4th ed. Philadelphia: Elsevier Science, 2003: 389–420 3. Acierno SP, Waldhausen JH. Congenital cervical cysts, sinuses and fistulae. Otolaryngol Clin North Am 2007;40:161–176 4. Chun-Hui Tsai A, Vallee S. Genetics, syndromology, and craniofacial anomalies. In: Bluestone CD, ed. Pediatric Otolaryngology. 4th ed. Philadelphia: Elsevier Science, 2003:37–59 5. Markova TG. Clinical symptoms of branchio-oto-renal syndrome in a family with a positive test for EYA1 gene. Vestn Otorinolaringol 2006;6:25–28 6. Okada M, Fujimaru R, Morimoto N, et al. EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions. Pediatr Nephrol 2006;21:475–481 7. Trummer T, Müller D, Schulze A, et al. Branchio-oculo-facial syndrome and branchio-otic/branchio-oto-renal syndromes are distinct entities. J Med Genet 2002;39:71–73 8. Kulkarni ML, Deshmukh S, Kumar A, et al. Branchio-oculo-facial syndrome. Indian J Pediatr 2005;72:701–703 9. Orten DJ, Fischer SM, Sorensen JL, et al. Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. Hum Mutat 2008;29:537–544 10. Olavarrieta L, Morales-Angulo C, del Castillo I, et al. Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes. Clin Genet 2008;73:262–267 11. Sanggaard KM, Rendtorff ND, Kjaer KW, et al. Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. Eur J Hum Genet 2007;15:1121–1131 12. Matsunaga T, Okada M, Usami S, et al. Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1. Acta Otolaryngol 2007;127:98–104 13. Kochhar A, Fischer SM, Kimberling WJ, et al. Branchio-oto-renal syndrome. Am J Med Genet A 2007;143:1671–1678
Video-Assisted Resection in Benign Frontal Tumors Jorge Orlando Guerrissi, MD
DISCUSSION The girl fulfilled the BOR diagnostic criteria, manifesting 3 cardinal features (hearing loss, branchial fistulas, renal hypoplasia). Recently, we have genetic confirmation of the presence EYA1 gene. The boy also has the same features as those of the girl, although without renal abnormalities. In addition, he showed mild mental retardation, dysmorphic ears, facial asymmetry, submucous cleft palate, and broad malformed nose. The boy's symptoms were all compatible with the
Abstract: Soft and osseous tumors that develop into the frontal are the most profitable with the use of video-assisted surgery, thus avoiding also a visible scar. In the Department of Plastic Surgery at Argerich Hospital in Buenos Aires, Argentina, from 1999 to 2010, video-assisted operations were used in the treatment of 158 patients, 26 of them presented lipomas and osteomas into the frontal tissues.
© 2014 Mutaz B. Habal, MD
Copyright © 2014 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited.
e31
Brief Clinical Studies
However, the major advantages of this technique are no need of secondary grafting and waiting for secondary healing, so the patient's comfort has been increased. In conclusion, there is no certain surgical treatment of severe rhinophyma as a variety of surgical techniques have been reported. We obtained a good esthetic result with this gull-wing incision in a patient with severe rhinophyma and wanted to share it to the plastic surgery community to provide a small contribution.
REFERENCES 1. Rebora A. Rosacea. J Invest Dermatol 1987;88:56–60 2. Rohrich RJ, Griffin JR, Adams WP Jr. Rhinophyma: review and update. Plast Reconstr Surg 2002;110:860–869 3. Redett RJ, Manson PN, Goldberg N, et al. Methods and results of rhinophyma treatment. Plast Reconstr Surg 2001;107:1115–1123 4. Diffenbach JF. Die operative chirurgie. Leipzig: Brockhaus, 1845:373 5. Fisher WJ. Rhinophyma: its surgical treatment. Plast Reconstr Surg 1970;45:466–470 6. Odou BL, Odou ER. Rhinophyma. Am J Surg 1961;102:3–16 7. Sadick H, Goepel B, Bersch C, et al. Rhinophyma: diagnosis and treatment options for a disfiguring tumor of the nose. Ann Plast Surg 2008;61:114–120
Branchiootorenal and Branchiooculofacial Syndrome Jovana Ječmenica, MD, Aleksandra Bajec-Opančina, MD Introduction: Branchiootorenal syndrome (BOR) is an autosomal dominant disorder. One of very similar syndromes is branchiooculofacial syndrome (BOF), with incomplete penetrance and variable expression. The overlap between BOR syndrome and BOF syndrome includes external ear abnormalities with hearing loss, lachrymal duct obstruction, branchial cleft remnants, and renal or urethral defects. The relationship between these 2 syndromes is still unclear. Case Outline: We present 2 patients with these rare syndromes: a girl who has fulfilled the diagnostic criteria for BOR syndrome and a boy who has more than fulfilled the criteria for BOF syndrome. The diagnosis of BOF syndrome was performed only on the basis of clinical findings, without genetic confirmation. Conclusions: Differential diagnosis between these similar syndromes with phenotypic variation is delicate especially without genetic examinations. Key Words: Branchial arch, renal, syndrome From the Department of ENT, Unit for Audiology and Neurotology, Institute for Health Protection of Mother and Child of Serbia “Dr Vukan Cupic,” Belgrade, Serbia. Received June 11, 2014. Accepted for publication July 31, 2014. Address correspondence and reprint requests to Jovana Ječmenica, MD, Department of ENT, Unit for Audiology and Neurotology, Institute for Health Protection of Mother and Child of Serbia “Dr Vukan Cupic,” Belgrade, Serbia; Email: [email protected] The authors report no conflicts of interest. Copyright © 2014 by Mutaz B. Habal, MD ISSN: 1049-2275 DOI: 10.1097/SCS.0000000000001268
e30
B
ranchiootorenal syndrome (BOR syndrome, branchiootorenal dysplasia, Melnick-Fraser syndrome) is an autosomal dominant disorder with branchial, otologic, and renal manifestations. The disease is represented by various phenotypic expressions. The clinical features of BOR include malformations of the external, middle, or inner ear with associated hearing loss, branchial cleft sinuses, cervical fistulas, and renal anomalies, which range from mild hypoplasia to bilateral renal agenesis.1 There are several types of malformations of the branchial arches in BOR, including cupping of the outer ear, ear pits, and tags of skin in front of the ear as well as cysts or fistulas on the neck.2,3 The severity of hearing loss ranges from mild to profound and can be conductive, sensorineural, and mixed. In addition to external auditory canal stenosis, atresia occurs. Middle ear anomalies can include malformation, malposition, dislocation, or fixation of the ossicles, as well as reduction in size or malformation of the middle ear cavity. Inner ear malformations include cochlear hypoplasia, enlargement of the cochlear and vestibular aqueducts, and hypoplasia of the lateral semicircular canal.4,5 The phenotypic expression can vary significantly between and within affected families. Renal ultrasonography or intravenous pyelography is essential to determine the extent of renal involvement.6 Older reports indicate that BOR has a prevalence of 1 in 40,000 people and is responsible for approximately 2% of profound childhood deafness.4 Some cases of BOR syndrome are caused by mutations in EYA1 on chromosome 8q, whereas other cases have been linked to an as yet unidentified gene on 1q31.1 The disease is caused by mutations in the EYA1 gene, which has 16 exons.
Differential Diagnostic Considerations There are few very similar syndromes such as branchiootic syndrome, branchiootoureteral syndrome, branchiooculofacial syndrome, and otofaciocervical syndrome.4 Branchiooculofacial syndrome is a very rare autosomal dominant disorder with incomplete penetration and variable expression, with phenotypic variation ranging from mild to severe forms, involving eye, ear, oral, and craniofacial structures. Branchial cleft sinuses, nasolacrimal duct obstruction, conductive hearing loss, abnormal upper lip with pseudocleft, as well as low-set and malformed ears. Additional findings include low birth weight; growth retardation; aplasia cutis congenita; cleft palate; malformed, asymmetric nose with broad bridge and flattened tip; microphthalmia; prematurely gray hair; as well as mild mental retardation to normal intelligence. In addition, renal aplasia, hypoplasia, or dysplasia may occur.4,7,8 During 2008, TFAPA2A gene was found on 6p24–p25, which represents the background of this syndrome. Branchial anomalies, preauricular pits, and hearing loss have been described in the absence of renal dysplasia as a branchio-oto syndrome, which may constitute a distinct entity.7 The overlap between BOR syndrome and BOF syndrome includes external ear abnormalities with hearing loss, lacrimal duct obstruction, branchial cleft remnants, and renal or ureteral defects. The relationship between these 2 syndromes is still unclear. Contiguous gene deletion phenomenon, different mutations in the same gene, or distinct entities have all been proposed.9,10 The wide spectrum of phenotypic findings associated with EYA1 mutations can make the diagnosis of BOR syndrome difficult. An additional problem is genetic heterogeneity: mutations in other genes cause a similar phenotype.9,11–13
CASE OUTLINE The aim of this case report was to present 2 patients from our clinical practice and make some differential diagnostic considerations. © 2014 Mutaz B. Habal, MD
Copyright © 2014 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited.
The Journal of Craniofacial Surgery • Volume 26, Number 1, January 2015
We are presenting 2 patients with these rare syndromes. First, we present a 4-year-old girl with BOR syndrome who has unilateral renal hypoplasia, bilateral cervical branchial cysts, and a hearing loss. Intrautero presence of unilateral renal hypoplasia was noticed. Lateral fistula on the left side of the neck was operated. Preauricular pits were present at both sides. The nose was without pathologic findings. Otoscopic findings were regular bilaterally. The throat showed velopharyngeal insufficiency without having signs of submucous cleft palate. Tympanogram was type “A's” on both sides. Acoustic reflex was absent bilaterally at all probe intensities. Transitory otoacoustic emissions were not registered. Properly formed responses of brain auditory evoked potentials were found at intensity level of 70 dB bilaterally. Liminary tonal audiometry showed a conductive hearing loss bilaterally with pure tone average of approximately 75 dB for the air conduction. Caloric test showed regular function of both labyrinths. We avoided computed tomographic scan because the parents were not interested in doing otosurgery. Genetic investigations in the United Kingdom have confirmed the presence of BOR syndrome. She had achieved regularly milestones except the development of her speech, which was delayed and nonintelligible for the unknown listeners. Her intelligence and growth were normal at the age of 4 years. Family history was negative for hearing loss, neck fistula, and kidney problems. She has a younger healthy brother. The girl has started with auditory training. She is using hearing aids for air conduction. Her speech is becoming better, but intelligibility is still not satisfying. We also present a boy with BOF syndrome who has the following characteristic features: bilateral cervical branchial cysts; preauricular and postauricular pits; submucous cleft palate; bilateral lacrimal duct obstruction and bilateral low-set small, malformed ears; facial asymmetry; microphthalmia; malformed nose with broad bridge and flattened tip; colobomas, as well as aortal malformation (arcus aortae dexter). His intelligence and growth were mildly delayed at the age of 5 years. The head was considerably bigger and has a characteristic shape of “tower skull.” On the left side of the neck was a scar of the operation and fistula was still present on the right side. The external auditory channel was steep and stenotic, but the eardrum was with normal anatomic characteristics. Tympanogram was type “A's” on both sides. Acoustic reflex was absent bilaterally at all probe tone intensities. Transitory otoacoustic emissions were not registered. Liminary tonal audiometry showed a conductive hearing loss bilaterally with pure tone average of approximately 75 dB for the air conduction. Caloric test showed regular function of both labyrinths. Computed tomographic scan of temporal bones showed stenosis of external auditory channel and minor malformations of the ossicles. The development of his speech was delayed; his speech was nonintelligible for the unknown listeners also because of rhinolalia apperta, but today, when he is 11 years old, his speech is completely satisfactory. In his family history, there are data about his father having blocked tear duct, lateral neck fistulas, low-positioned ears, and mild conductive hearing loss. The boy has auditory training with hearing aids, and he has achieved very satisfactory speech understanding and considerably intelligible speech in the last several years. Now, he is going to a regular elementary school and achieving program.
Brief Clinical Studies
diagnosis of BOF syndrome. The diagnosis was performed only on the basis of clinical findings, without genetic confirmation. Differential diagnosis between these similar syndromes is delicate even with genetic examinations. The BOF, BOR, and branchiootic syndromes are caused by mutations in different genes. The pathogenetic mechanisms for overlapping and syndrome-specific symptoms are still unknown. Rare cases of hereditary syndromes with hearing problems provide more knowledge about the structure of hereditary hypoacusis forms in the population. The syndromal forms reflect a complex genetic basis of the processes of sound perception.
REFERENCES 1. Patrick E, Brookhouser MD. F.A.C.S. diseases of the inner ear and sensorineural hearing loss. In: Bluestone CD, ed. Pediatric Otolaryngology. 4th ed. Philadelphia: Elsevier Science, 2003: 779–808 2. Miura M, Sando I, Thompson S. Congenital anomalies of the external and middle ears. In: Bluestone CD, ed. Pediatric Otolaryngology. 4th ed. Philadelphia: Elsevier Science, 2003: 389–420 3. Acierno SP, Waldhausen JH. Congenital cervical cysts, sinuses and fistulae. Otolaryngol Clin North Am 2007;40:161–176 4. Chun-Hui Tsai A, Vallee S. Genetics, syndromology, and craniofacial anomalies. In: Bluestone CD, ed. Pediatric Otolaryngology. 4th ed. Philadelphia: Elsevier Science, 2003:37–59 5. Markova TG. Clinical symptoms of branchio-oto-renal syndrome in a family with a positive test for EYA1 gene. Vestn Otorinolaringol 2006;6:25–28 6. Okada M, Fujimaru R, Morimoto N, et al. EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions. Pediatr Nephrol 2006;21:475–481 7. Trummer T, Müller D, Schulze A, et al. Branchio-oculo-facial syndrome and branchio-otic/branchio-oto-renal syndromes are distinct entities. J Med Genet 2002;39:71–73 8. Kulkarni ML, Deshmukh S, Kumar A, et al. Branchio-oculo-facial syndrome. Indian J Pediatr 2005;72:701–703 9. Orten DJ, Fischer SM, Sorensen JL, et al. Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. Hum Mutat 2008;29:537–544 10. Olavarrieta L, Morales-Angulo C, del Castillo I, et al. Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes. Clin Genet 2008;73:262–267 11. Sanggaard KM, Rendtorff ND, Kjaer KW, et al. Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. Eur J Hum Genet 2007;15:1121–1131 12. Matsunaga T, Okada M, Usami S, et al. Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1. Acta Otolaryngol 2007;127:98–104 13. Kochhar A, Fischer SM, Kimberling WJ, et al. Branchio-oto-renal syndrome. Am J Med Genet A 2007;143:1671–1678
Video-Assisted Resection in Benign Frontal Tumors Jorge Orlando Guerrissi, MD
DISCUSSION The girl fulfilled the BOR diagnostic criteria, manifesting 3 cardinal features (hearing loss, branchial fistulas, renal hypoplasia). Recently, we have genetic confirmation of the presence EYA1 gene. The boy also has the same features as those of the girl, although without renal abnormalities. In addition, he showed mild mental retardation, dysmorphic ears, facial asymmetry, submucous cleft palate, and broad malformed nose. The boy's symptoms were all compatible with the
Abstract: Soft and osseous tumors that develop into the frontal are the most profitable with the use of video-assisted surgery, thus avoiding also a visible scar. In the Department of Plastic Surgery at Argerich Hospital in Buenos Aires, Argentina, from 1999 to 2010, video-assisted operations were used in the treatment of 158 patients, 26 of them presented lipomas and osteomas into the frontal tissues.
© 2014 Mutaz B. Habal, MD
Copyright © 2014 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited.
e31
