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a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"

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(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/12/16 00:35:30」(JST)

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Goldenhar syndrome (also known as Oculo-Auriculo-Vertebral (OAV) syndrome) is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.^[1] Common clinical manifestations include limbal dermoids, preauricular skin tags, and strabismus.^[2]

The term is sometimes used interchangeably with hemifacial microsomia, although this definition is usually reserved for cases without internal organ/verterbrae disruption.

It affects between 1/3500 to 1/26000 live births in the UK.^{[citation needed]}

Eponym[edit]

The condition was documented in 1952 by Maurice Goldenhar (1924-2001).^[3]^[4]

Symptoms[edit]

Chief markers of Goldenhar syndrome are incomplete development of the ear, nose, soft palate, lip, and mandible on usually one side of the body. Additionally, some patients will have growing issues with internal organs, especially heart, kidneys, and lungs. Typically, the organ will either not be present on one side or will be underdeveloped. Note that while it is more usual for there to be problems on only one side, it has been known for defects to occur bilaterally (approximate incidence 10% of confirmed GS cases).

Other problems can include severe scoliosis (twisting of the vertebrae), limbal dermoids, and hearing loss (see hearing loss with craniofacial syndromes).Deafness/blindness in one or both ears/eyes. Granulosa cell tumors may be associated as well.

Causes[edit]

The cause of Goldenhar syndrome is largely unknown. However, it is thought to be multifactorial, although there may be a genetic component, which would account for certain familial patterns. It has been suggested that there is a branchial arch development issue late in the first trimester.

An increase in Goldenhar syndrome in the children of Gulf War veterans has been suggested but the difference was shown to be statistically insignificant.^[5]

Treatment[edit]

Treatment is usually confined to such surgical intervention as may be necessary to help the child to develop e.g. jaw distraction/bone *rib* grafts, ocular dermoid debulking (see below), repairing cleft palate/lip, repairing heart malformations or spinal surgery. Some patients with Goldenhar syndrome will require assistance as they grow by means of hearing aids or glasses.

Stem cell grafting (womb tissue grafting) has been successfully used to "reprogram" eye dermoids, effectively halting the regrowth of eye dermoids. These tissues that grow on the eye are "mis-programmed" cells (sometimes tooth or nail cells instead of eye cells).

References[edit]

^ Touliatou V, Fryssira H, Mavrou A, Kanavakis E, Kitsiou-Tzeli S (2006). "Clinical manifestations in 17 Greek patients with Goldenhar syndrome". Genet. Couns. 17 (3): 359–70. PMID 17100205.
^ Zaka-ur-Rab Z, Mittal S, (2007). "Optic Nerve Head Drusen in Goldenhar Syndrome". JK Science 9 (1): 33–34. Unknown parameter |unused_data= ignored (help)
^ synd/2300 at Who Named It?
^ M. Goldenhar. Associations malformatives de l’oeil et de l’oreille, en particulier le syndrome dermoïde epibulbaire-appendices auriculaires-fistula auris congenita et ses relations avec la dysostose mandibulo-faciale. Journal de génétique humaine, Genève, 1952, 1: 243-282.
^ Araneta MR, Moore CA, Olney RS et al. (1997). "Goldenhar syndrome among infants born in military hospitals to Gulf War veterans". Teratology 56 (4): 244–251. doi:10.1002/(SICI)1096-9926(199710)56:4<244::AID-TERA3>3.0.CO;2-Z. PMID 9408975.

External links[edit]

Goldenhar UK Support Group
FACES: The National Craiofacial Association - Assisting children and adults with facial differences due to birth defects, trauma, or cancer
Changing Faces - A UK based charity working with facial disfigurement
Cleft Lip and Palate Foundation of Smiles - Helping patients and families born with craniofacial differences and related syndromes

UpToDate Contents

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1. 頭蓋顔面異常を伴う症候群 syndromes with craniofacial abnormalities
2. 耳の先天異常 congenital anomalies of the ear
3. 小児における顔面神経麻痺 facial nerve palsy in children
4. 小児の気道確保困難 the difficult pediatric airway
5. 小児における身体的診察：HEENT the pediatric physical examination heent

English Journal

Pattern of craniofacial anomalies seen in a tertiary care hospital in Saudi Arabia.

Aziza A, Kandasamy R, Shazia S.SourceDepartment of Biostatistics, Epidemiology and Scientific Computing, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Annals of Saudi medicine.Ann Saudi Med.2011 Sep-Oct;31(5):488-93.
Background and Objective : To date, there are no published studies from Saudi Arabia on the incidence or etiology of craniofacial anomalies. This study aimed to report the patterns of craniofacial anomalies in Saudi Arabia. Design and Setting : Hospital-based, descriptive study conducted during 2002
PMID 21911986

Ear abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome).

Rosa RF, Silva AP, Goetze TB, Bier Bde A, Almeida ST, Paskulin GA, Zen PR.SourceCHSCPA graduate program on pathology, UFCSPA.
Brazilian journal of otorhinolaryngology.Braz J Otorhinolaryngol.2011 Aug;77(4):455-60.
Oculo-auriculo-vertebral spectrum (OAVS) is a rare condition characterized by the involvement of the first branchial arches.PURPOSE: To investigate the ear abnormalities of a sample of patients with OAVS.MATERIALS AND METHODS: The sample consisted of 12 patients with OAVS seen at the Clinical Geneti
PMID 21860971

Japanese Journal

Craniofacial and dental characteristics of Goldenhar syndrome: a report of two cases

Tuna Elif B.,Orino Daisuke,Ogawa Kei,Yildirim Mine,Seymen Figen,Gencay Koray,Maeda Takahide
Journal of Oral Science 53(1), 121-124, 2011
… We describe the dental and craniofacial anomalies of 2 ethnically distinct patients with Goldenhar syndrome, which is characterized by hemifacial microsomia, facial asymmetry, and ear and dental abnormalities. … A 7-year-old Japanese girl and 12-year-old Turkish boy with Goldenhar syndrome were examined clinically and radiographically; …
NAID 130000659045