RESEARCH POSTER PRESENTATION DESIGN © 2012 www.PosterPresentations.com A 2-year-old Caucasian female was born with right aural atresia and microtia, dermoid cyst of the iris, and accessory tragus. The patient was born via C-section to a 28-year-old, G3P2 mother, at 40 weeks gestation. All fetal ultrasounds were unremarkable throughout the pregnancy, and the subsequent delivery was uncomplicated. The patient failed her newborn BAERS hearing screen on the right and passed on the left. At the time of birth, no family history of birth anomalies were apparent. Past medical history is unremarkable. At six months of age, pediatric geneticists at a tertiary care center evaluated the patient. A clinical diagnosis was rendered and genetic testing was ordered. Examination: The patient displayed appropriate milestones for her age. The right ear displays aural atresia and microtia. Additionally, the right preauricular region showed a firm, flesh colored nodule, consistent with an accessory tragus. The left eye displayed a yellowish-white, elevated mass on the iris at the 5-o’clock position, consistent with epibulbar dermoid cyst. Labs: Chromosomal Microarray (CMA), Full Spine Xray, Echocardiogram Case Presentation Patient Course & Therapy At one year of age, the accessory tragus was removed, but currently, it seems to be regrowing in the same location. The patient visits her ophthalmologist every three months for close monitoring. To date, reports show her vision is unaffected. She also visits with otolaryngologist every three months for auditory monitoring. A CT of the right temporal bone is planned when she is 5-years-old in order to examine the internal structures of the ear, and determine if opening the external auditory canal is worth pursuing. Additionally, she sees craniofacial surgical specialists once a year. The need for close and diligent follow up is required in order to evaluate new or changing phenomenon as she progresses and develops in age. To date, all her developmental milestones have been achieved. No family history of birth anomalies were noted at the time of her birth. However, this past year, a first cousin was born with a dermoid cyst above her eyebrow. Whether these events are related or not remains to be determined. Conclusion Goldenhar syndrome is a rare congenital developmental anomaly affecting the first and second branchial arches. Classic features of the syndrome include ocular, aural, and vertebral developmental defect. Failed newborn screens can be the key clue for rare syndromes and they should be pursued with a thorough work-up. A multidisciplinary approach may be required. References Peter Jajou DO PGY-3 Dermatology Resident; Beaumont Health; Trenton, MI Goldenhar Syndrome Discussion Goldenhar syndrome as described by the French ophthalmologist Maurice Goldenhar in 1952 consisted of a clinical triad of features including accessory tragie, mandibular hypoplasia, and ocular epibulbar dermoids. In 1963 Gorlin et al., observed additional vertebral anomalies in association with Goldenhar’s syndrome and termed it oculo-auriculo-vertebral dysplasia. Subsequently, both terms have been used interchangeably. The syndrome has a heterogenous phenotype with patients presenting with a varying spectrum of anomalies affecting the eyes, ears, and vertebrae. Mandibular hypoplasia has also been observed. Abnormalities are found only unilaterally in 85% of cases and bilaterally in 10-33%. Classically the features of this syndrome can include ocular changes such as epibulbar dermoids, lipodermoids, anophthalmia, micropthalmia, and coloboma. Aural features may include pre-auricular skin tags, hearing loss, atresia of the external meatus, and microtia. Vertebral anomalies consist of scoliosis, cervical fusion, atlas occipitalization and hemivertebrae. While the exact etiology remains largely unknown, it is known that the syndrome is a congenital anomaly affecting the first and second branchial arches. Abnormal embryonic vascular supply and disrupted mesodermal migration have been proposed as causes. Autosomal dominant, autosomal recessive and multifactorial inheritance patterns have also been suggested. Ingestion of drugs during pregnancy such as thalidomide, retinoic acid, tamoxifen, heavy alcohol, and cocaine have been suggested along with maternal diabetes, rubella, and influenza as etiologic factors. One case of the syndrome reported vitamin A toxicity in the mother. A daily dose of 25000IU produces a teratogenic effect on neural crest cell formations which are necessary for proper pharyngeal arch development. When considering the diagnosis of Goldenhar syndrome, the physician has to be aware that 50% of patients will have other systemic involvement. Renal agenesis, pulmonary agenesis, cardiac structural defects, cleft lip and palate, macrostomia, micrognathia, tracheoesophageal fistulas, umbilical hernia, cognitive developmental delays, and webbing of the neck are all known associations. The most common cardiac defects are Tetralogy of Fallot and ventricular septal defects. Other syndromes associated with multiple pre-auricular tragi to consider in the differential diagnosis include Treacher-Collins syndrome, Wolf-Hirschhorn syndrome, Nager's acrofacial dysostosis, Townes-Brocks syndrome, and Delleman syndrome. Treatment options vary based on age and systemic involvement and are mainly cosmetic in less complicated cases. More severe cases will require aggressive surgical intervention early on to avoid vision and hearing loss. Reconstructive surgery can be performed on the external ear at age 6-8 and the jaw in early teens. Epibulbar dermoids should be surgically excised. A multidisciplinary approach including otolaryngology, ophthalmology, pediatrician, and dermatology is necessary. Prognosis is good in uncomplicated cases with minimal systemic involvement. 1. M. Goldenhar. Associations malformatives de l’oeil et de l’oreille, en particular le syndrome dermoïde epibulbaire-appendices auriculaires- fistula auris congenita et ses relations avec la dysostose mandibulofaciale. Journal de génétique humaine, Genève, 1952, 1: 243-282. 2. Gaurkar, S. P., Gupta K. D., Parmar, K. S., & Shah, B. J. (2013). Goldenhar Syndrome: A Report of 3 Cases. Indian Journal of Dermatology, 58(3), 244. 3. Ashokan, C. S., Sreenivasan, A., & Saraswathy, G. K. (2014). Goldenhar Syndrome – Review with Case Series. Journal of Clinical and Diagnostic Research : JCDR, 8(4), ZD17-ZD19
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A 2-year-old Caucasian female was born with right aural atresia and
microtia, dermoid cyst of the iris, and accessory tragus. The patient
was born via C-section to a 28-year-old, G3P2 mother, at 40 weeks
gestation. All fetal ultrasounds were unremarkable throughout the
pregnancy, and the subsequent delivery was uncomplicated. The
patient failed her newborn BAERS hearing screen on the right and
passed on the left.
At the time of birth, no family history of birth anomalies were apparent.
Past medical history is unremarkable.
At six months of age, pediatric geneticists at a tertiary care center
evaluated the patient. A clinical diagnosis was rendered and genetic
testing was ordered.
Examination: The patient displayed appropriate milestones for her age.
The right ear displays aural atresia and microtia. Additionally, the right
preauricular region showed a firm, flesh colored nodule, consistent with
an accessory tragus. The left eye displayed a yellowish-white, elevated
mass on the iris at the 5-o’clock position, consistent with epibulbar
dermoid cyst.
Case Presentation
Patient Course & Therapy
At one year of age, the accessory tragus was removed, but currently, it
seems to be regrowing in the same location. The patient visits her
ophthalmologist every three months for close monitoring. To date,
reports show her vision is unaffected. She also visits with
otolaryngologist every three months for auditory monitoring. A CT of
the right temporal bone is planned when she is 5-years-old in order to
examine the internal structures of the ear, and determine if opening the
external auditory canal is worth pursuing. Additionally, she sees
craniofacial surgical specialists once a year.
The need for close and diligent follow up is required in order to
evaluate new or changing phenomenon as she progresses and develops
in age. To date, all her developmental milestones have been achieved.
No family history of birth anomalies were noted at the time of her birth.
However, this past year, a first cousin was born with a dermoid cyst
above her eyebrow. Whether these events are related or not remains to
be determined.
of the syndrome include ocular, aural, and vertebral
developmental defect. Failed newborn screens can be the key
clue for rare syndromes and they should be pursued with a
thorough work-up. A multidisciplinary approach may be
required. References
Peter Jajou DO PGY-3 Dermatology Resident; Beaumont Health; Trenton, MI
Goldenhar Syndrome
Discussion
Goldenhar syndrome as described by the French ophthalmologist Maurice Goldenhar in 1952 consisted of a clinical triad of features including accessory tragie, mandibular hypoplasia, and ocular epibulbar dermoids. In 1963 Gorlin et al., observed additional vertebral anomalies in association with Goldenhar’s syndrome and termed it oculo-auriculo-vertebral dysplasia. Subsequently, both terms have been used interchangeably. The syndrome has a heterogenous phenotype with patients presenting with a varying spectrum of anomalies affecting the eyes, ears, and vertebrae. Mandibular hypoplasia has also been observed. Abnormalities are found only unilaterally in 85% of cases and bilaterally in 10-33%.
Classically the features of this syndrome can include ocular changes such as epibulbar dermoids, lipodermoids, anophthalmia, micropthalmia, and coloboma. Aural features may include pre-auricular skin tags, hearing loss, atresia of the external meatus, and microtia. Vertebral anomalies consist of scoliosis, cervical fusion, atlas occipitalization and hemivertebrae.
While the exact etiology remains largely unknown, it is known that the syndrome is a congenital anomaly affecting the first and second branchial arches. Abnormal embryonic vascular supply and disrupted mesodermal migration have been proposed as causes. Autosomal dominant, autosomal recessive and multifactorial inheritance patterns have also been suggested. Ingestion of drugs during pregnancy such as thalidomide, retinoic acid, tamoxifen, heavy alcohol, and cocaine have been suggested along with maternal diabetes, rubella, and influenza as etiologic factors. One case of the syndrome reported vitamin A toxicity in the mother. A daily dose of 25000IU produces a teratogenic effect on neural crest cell formations which are necessary for proper pharyngeal arch development.
When considering the diagnosis of Goldenhar syndrome, the physician has to be aware that 50% of patients will have other systemic involvement. Renal agenesis, pulmonary agenesis, cardiac structural defects, cleft lip and palate, macrostomia, micrognathia, tracheoesophageal fistulas, umbilical hernia, cognitive developmental delays, and webbing of the neck are all known associations. The most common cardiac defects are Tetralogy of Fallot and ventricular septal defects. Other syndromes associated with multiple pre-auricular tragi to consider in the differential diagnosis include Treacher-Collins syndrome, Wolf-Hirschhorn syndrome, Nager's acrofacial dysostosis, Townes-Brocks syndrome, and Delleman syndrome.
Treatment options vary based on age and systemic involvement and are mainly cosmetic in less complicated cases. More severe cases will require aggressive surgical intervention early on to avoid vision and hearing loss. Reconstructive surgery can be performed on the external ear at age 6-8 and the jaw in early teens. Epibulbar dermoids should be surgically excised. A multidisciplinary approach including otolaryngology, ophthalmology, pediatrician, and dermatology is necessary. Prognosis is good in uncomplicated cases with minimal systemic involvement.
1. M. Goldenhar. Associations malformatives de l’oeil et de l’oreille, en particular le syndrome dermoïde epibulbaire-appendices auriculaires- fistula auris congenita et ses relations avec la dysostose mandibulofaciale. Journal de génétique humaine, Genève, 1952, 1: 243-282.
2. Gaurkar, S. P., Gupta K. D., Parmar, K. S., & Shah, B. J. (2013). Goldenhar Syndrome: A Report of 3 Cases. Indian Journal of Dermatology, 58(3), 244.
A 2-year-old Caucasian female was born with right aural atresia and
microtia, dermoid cyst of the iris, and accessory tragus. The patient
was born via C-section to a 28-year-old, G3P2 mother, at 40 weeks
gestation. All fetal ultrasounds were unremarkable throughout the
pregnancy, and the subsequent delivery was uncomplicated. The
patient failed her newborn BAERS hearing screen on the right and
passed on the left.
At the time of birth, no family history of birth anomalies were apparent.
Past medical history is unremarkable.
At six months of age, pediatric geneticists at a tertiary care center
evaluated the patient. A clinical diagnosis was rendered and genetic
testing was ordered.
Examination: The patient displayed appropriate milestones for her age.
The right ear displays aural atresia and microtia. Additionally, the right
preauricular region showed a firm, flesh colored nodule, consistent with
an accessory tragus. The left eye displayed a yellowish-white, elevated
mass on the iris at the 5-o’clock position, consistent with epibulbar
dermoid cyst.
Case Presentation
Patient Course & Therapy
At one year of age, the accessory tragus was removed, but currently, it
seems to be regrowing in the same location. The patient visits her
ophthalmologist every three months for close monitoring. To date,
reports show her vision is unaffected. She also visits with
otolaryngologist every three months for auditory monitoring. A CT of
the right temporal bone is planned when she is 5-years-old in order to
examine the internal structures of the ear, and determine if opening the
external auditory canal is worth pursuing. Additionally, she sees
craniofacial surgical specialists once a year.
The need for close and diligent follow up is required in order to
evaluate new or changing phenomenon as she progresses and develops
in age. To date, all her developmental milestones have been achieved.
No family history of birth anomalies were noted at the time of her birth.
However, this past year, a first cousin was born with a dermoid cyst
above her eyebrow. Whether these events are related or not remains to
be determined.
of the syndrome include ocular, aural, and vertebral
developmental defect. Failed newborn screens can be the key
clue for rare syndromes and they should be pursued with a
thorough work-up. A multidisciplinary approach may be
required. References
Peter Jajou DO PGY-3 Dermatology Resident; Beaumont Health; Trenton, MI
Goldenhar Syndrome
Discussion
Goldenhar syndrome as described by the French ophthalmologist Maurice Goldenhar in 1952 consisted of a clinical triad of features including accessory tragie, mandibular hypoplasia, and ocular epibulbar dermoids. In 1963 Gorlin et al., observed additional vertebral anomalies in association with Goldenhar’s syndrome and termed it oculo-auriculo-vertebral dysplasia. Subsequently, both terms have been used interchangeably. The syndrome has a heterogenous phenotype with patients presenting with a varying spectrum of anomalies affecting the eyes, ears, and vertebrae. Mandibular hypoplasia has also been observed. Abnormalities are found only unilaterally in 85% of cases and bilaterally in 10-33%.
Classically the features of this syndrome can include ocular changes such as epibulbar dermoids, lipodermoids, anophthalmia, micropthalmia, and coloboma. Aural features may include pre-auricular skin tags, hearing loss, atresia of the external meatus, and microtia. Vertebral anomalies consist of scoliosis, cervical fusion, atlas occipitalization and hemivertebrae.
While the exact etiology remains largely unknown, it is known that the syndrome is a congenital anomaly affecting the first and second branchial arches. Abnormal embryonic vascular supply and disrupted mesodermal migration have been proposed as causes. Autosomal dominant, autosomal recessive and multifactorial inheritance patterns have also been suggested. Ingestion of drugs during pregnancy such as thalidomide, retinoic acid, tamoxifen, heavy alcohol, and cocaine have been suggested along with maternal diabetes, rubella, and influenza as etiologic factors. One case of the syndrome reported vitamin A toxicity in the mother. A daily dose of 25000IU produces a teratogenic effect on neural crest cell formations which are necessary for proper pharyngeal arch development.
When considering the diagnosis of Goldenhar syndrome, the physician has to be aware that 50% of patients will have other systemic involvement. Renal agenesis, pulmonary agenesis, cardiac structural defects, cleft lip and palate, macrostomia, micrognathia, tracheoesophageal fistulas, umbilical hernia, cognitive developmental delays, and webbing of the neck are all known associations. The most common cardiac defects are Tetralogy of Fallot and ventricular septal defects. Other syndromes associated with multiple pre-auricular tragi to consider in the differential diagnosis include Treacher-Collins syndrome, Wolf-Hirschhorn syndrome, Nager's acrofacial dysostosis, Townes-Brocks syndrome, and Delleman syndrome.
Treatment options vary based on age and systemic involvement and are mainly cosmetic in less complicated cases. More severe cases will require aggressive surgical intervention early on to avoid vision and hearing loss. Reconstructive surgery can be performed on the external ear at age 6-8 and the jaw in early teens. Epibulbar dermoids should be surgically excised. A multidisciplinary approach including otolaryngology, ophthalmology, pediatrician, and dermatology is necessary. Prognosis is good in uncomplicated cases with minimal systemic involvement.
1. M. Goldenhar. Associations malformatives de l’oeil et de l’oreille, en particular le syndrome dermoïde epibulbaire-appendices auriculaires- fistula auris congenita et ses relations avec la dysostose mandibulofaciale. Journal de génétique humaine, Genève, 1952, 1: 243-282.
2. Gaurkar, S. P., Gupta K. D., Parmar, K. S., & Shah, B. J. (2013). Goldenhar Syndrome: A Report of 3 Cases. Indian Journal of Dermatology, 58(3), 244.
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