Goldenhar's syndrome: case report

Pinheiro, António Luiz Barbosa; Araújo, Luciana Cavalcanti; Oliveira, Suely Baptista; Sampaio, Maria Carméli Correia; Freitas, André Carlos de

doi:10.1590/s0103-64402003000100013

Cited by 36 publications

(65 citation statements)

References 12 publications

(11 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…4 The diagnosis of this condition is controversial due to varied clinical presentations. 5 There has been a few reports of pulmonary agenesis and goldenhar syndrome in the literature. 6,7,8,9 When pulmonary agenesis is associated with Goldenhar syndrome, it is referred as an expanded Goldenhar complex.…”

Section: Discussionmentioning

confidence: 99%

Goldenhar syndrome with left bronchopulmonary agenesis: A rare association

Ghimire

Thapa

Shrestha

et al. 2011

Journal of Institute of Medicine

View full text Add to dashboard Cite

An eleven years female presented with recurrent chest infection since childhood with markedly diminished air entry on her right chest and mediastinal shift. She also had vague facial deformity with multiple auricular appendages. Computed tomography showed collapse of the left lung and on thoracotomy, complete agenesis of the left lung was noted. Goldenhar anomaly is rare and presents with variable degree of external anomaly. Its association with bronchopulmonary agenesis is extremely rare with few cases reported in the world literature. Features of other congenital should be sought for in a child with facial asymmetry, external auditory appendages, malformation of the, nose, soft palate, lip and mandible etc so that appropriate treatment can be administered.

show abstract

Section: Discussionmentioning

confidence: 99%

Goldenhar syndrome with left bronchopulmonary agenesis: A rare association

Ghimire

Thapa

Shrestha

et al. 2011

Journal of Institute of Medicine

View full text Add to dashboard Cite

show abstract

“…Eye abnormalities in Goldenhar syndrome include anophthalmia, microphthalmia, eyelid and iris coloboma, epibulbar limbal dermoids, strabismus, and retinal abnormalities [1,4,5,15,16].Our patient presented a right orbit reduced in size, microphthalmia with annular calcification in the right eye.…”

Section: Discussionmentioning

confidence: 86%

“…In the literature, there are case reports of Goldenhar syndrome associated with such oral malformations as micrognathia, macrostomia, cleft lip, cleft palate and fissured tongue [1,2,4,15,19]. Dental anomalies are represented by delayed tooth eruption, supernumerary teeth, and malocclusion.…”

Section: Discussionmentioning

confidence: 99%

“…Almost a century later, in 1952, the French ophthalmologist Maurice Goldenhar characterized the syndrome by the triad: epibulbar limbal dermoids, periauricular appendage, and ear abnormalities [3]. In 1963, the American oral pathologist and geneticist Robert James Gorlin [4] added vertebral anomalies to this triad and suggested the name of oculo-auriculo-vertebral dysplasia for this condition. In medical literature this syndrome is also known as oculo-auriculo-vertebral spectrum, Goldenhar-Gorlin syndrome, and oculo-auriculo-vertebral dysplasia with hemifacial microsomia [5].…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Goldenhar Syndrome

Costea

2015

J Clin Res Ophthalmol

View full text Add to dashboard Cite

Goldenhar syndrome (Oculo-Auriculo-Vertebral Spectrum) (OAVS) is a rare congenital condition characterized by craniofacial abnormalities associated with anomalies of the spine, heart, kidney, central nervous and gastrointestinal system. Craniofacial abnormalities include the incomplete development of the eye, ear, nose, soft palate, lips and jaw. We report a case of Goldenhar syndrome in a 14-years-old male patient. There are no other identified cases of congenital diseases in the patient's family history. At the age of 2, the patient was operated for complete right cleft lip and cleft palate dehiscence and it was then, that the suspicion for Goldenhar syndrome was harboured.The Goldenhar Syndrome diagnosis is clinical, as there are no specific genetic tests to detect this condition. The patient's karyotype was performed in the Genetics Clinic in order to order to exclude an eventual chromosomal abnormality. The result had been normal (46, XY).The ophthalmologic examination revealed the microphthalmia of the right eyeball. The ENT exam revealed facial dysmorphism, malformation of the right auricular pavilion with atresia of the external auditory canal and right nasal fossa malformation with deviated septum. The CT examination revealed a right orbit reduced in size, the right eyeball reduced in size with numerous annular calcifications, cleft lip and cleft palate, the area of the bone defect being occupied by soft tissue; flawed implanted dystrophic teeth; hypoplasia of the vertical and horizontal branch of the mandible; absence of the tympanic bone and the right external auditory canal; internal auditory canals, present semicircular ducts and complex vertebral malformations. Being a rare syndrome with many defects, early diagnosis is important, in order to apply appropriate treatment.

show abstract

“…Differentiating features amongst GHS and TCS include facial asymmetry and hypoplasia of the malar bones. 8 The TCS presents with downward slanting palpebral fissures, and hypoplastic changes in colobomas, zygomatic and mandibular zones, along with reduced cilia over lower eyelid cilia, and congenital abnormalities of ears. 9 The evaluation protocol of patients include identification; prenatal, perinatal, postnatal and complete family history, followed by complete general examination and systemic examination of the external ear and facial features.…”

Section: Discussionmentioning

confidence: 99%

Goldenhar Syndrome: Case Report

2015

IJSS j of Surgery

View full text Add to dashboard Cite

Goldenhar syndrome or fascio-auriculo-vertebral dysplasia or oculo-auriculo-vertebral syndrome is a sporadic or autosomal dominant inherited genetic rare syndrome characterized by mandibular hypoplasia, facial asymmetry, low set ear or atresia of ear canal, preauricular skin tags, hemi vertebra in cervical region, epibulbar dermoid, coloboma of upper eyelid, limb dermoids, cardiac abnormalities and other systemic abnormalities includes facial involvement, predisposing to the right side or there may be a more complex phenotypic abnormality with the skeletal, cardiac, renal and pulmonary systems. Central nervous system involvement are common with these patients, particularly there are higher chances with ophthalmologic anomalies. 50% of the patients with Goldenhar would have either conductive and/or sensorineural hearing loss. This case report describes a typical 40-year-old female patient who presented to the hospital with auricular abnormality and diminished hearing and was found to have the fascioauriculo-vertebral dysplasia spectrum of this syndrome and hypothyroidism. Diagnosis was based principally on clinical aspects. Radiology, laboratory fi ndings, otorhinolaryngologic evaluations were important in reaching a defi nitive diagnosis. Management depends on the patient's age and systemic clinical manifestations, with a multidisciplinary approach often being required.

show abstract

Goldenhar's syndrome: case report

Cited by 36 publications

References 12 publications

Goldenhar syndrome with left bronchopulmonary agenesis: A rare association

Goldenhar syndrome with left bronchopulmonary agenesis: A rare association

Goldenhar Syndrome

Goldenhar Syndrome: Case Report

Contact Info

Product

Resources

About