Goldenhar's Syndrome (Oculo-Auriculo-Vertebral Dysplasia) with Congenital Facial Nerve Palsy

Berker, Nilüfer; Acaroğlu, Gölge; Soykan, Emel

doi:10.3349/ymj.2004.45.1.157

Cited by 40 publications

(32 citation statements)

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“…Apart from the triad of features this syndrome may also present heart diseases (5-58% of the patients) (8), hypoplasia of the zygomatic, mandibular and maxillary bones, muscle hypoplasia, anatomical and morphological abnormalities of the tongue, vertebral anomalies, cleft palate, disturbance of the central nervous system and other visceral anomalies (9,10). Craniofacial anomalies, including mandibular, zygomatic and/or maxillary hypoplasias are found in 50% of patients with Goldenhar syndrome (11,12). The differential diagnosis of Goldenhar syndrome can be challenging because of the variety of clinical signs overlapping other conditions like Collins and Wildervanck syndrome (syndrome cervico oculoacusticum) which can be considered.…”

Section: Discussionmentioning

confidence: 99%

Goldenhar syndrome- A case report

Castelino¹,

Babu²,

Ka³

et al. 2015

MUSBED

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Goldenhar sendromu-Bir olgu raporuGoldenhar Sendromu, ilk iki brankiyal yarığın gelişim bozukluğu sonucunda oluşan, gelişimi tamamlanmamış kulak, burun, yumuşak damak, dudak ve mandibula ile karakterize doğumsal bir hastalıktır. Gelişim bozukluklarına neden olan Goldenhar Sendromu, beslenme ve çevresel faktörleri içeren çok bileşenli etyopatolojiye sahip nadir görülen kalıtımsal bir hastalıktır. Goldenhar bu durumu ilk defa 1952'de mikroti, hemifasiyal mikrozomi, kulak önünde akrokordon, epibulber dermoid ve vertebral malformasyonlar gibi çeşitli anomalilerin kombinasyonunu gösteren bir hastalık olarak tanımlamıştır. Bu olgu sunumunda hafif Goldehar Sendromu varyantı olan 30 yaşında erkek hastanın durumunu ilgili literatür özeti ile beraber bildirmekteyiz.

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Section: Discussionmentioning

confidence: 99%

Goldenhar syndrome- A case report

Castelino¹,

Babu²,

Ka³

et al. 2015

MUSBED

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“…Klasik olarak göz, kulak, vertebral kolon anomalileri ve hemifasiyal mikrosomi görülür. Goldenhar sendromu fenotipik özellikleri oldukça değişken olan gelişimsel bir sendromdur [9][10][11] . Olgumuzda göz, kulak önü anomalileri bulunmakla birlikte burun, dudak, damak, mandibula ve vertebra anomalilerinin olmaması, görme ve işitme bozukluğunun tespit edilememesi nedeniyle hafif form veya atipik Goldenhar sendromu düşünülebilir.…”

Section: Discussionunclassified

A patient with multiple skin tags, preauricular pit, limbal dermoid: Atypic Goldenhar syndrome

Kelekci¹,

Dündar²,

Karaca³

et al. 2014

TURKDERM

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Congenital anomalies are common conditions in newborns. Major abnormalities give rise to serious structural and functional disorders, meanwhile minor anomalies mostly lead to cosmetic concerns. Minor congenital anomalies are seen in approximately 15-20% of healthy newborns and often occur in the face and hands. The prenatal recognition of minor anomalies is difficult and can be overlooked. However, the detection of minor anomalies can provide a clue in the diagnosis of important malformations. Sometimes, they are important in terms of their association with syndromes. In this article, we present the rare case of a patient with congenital minor anomaly accompanied by acrochordon in front of the ear, ear pits, limbal dermoid, hemangioma on the trunk and sacral dimple. (Turkderm 2014; 48: 166-8 GirişAnomali normalden sapma anlamına gelen bir terimdir. Konjenital anomaliler yenidoğanlarda sık gözlenen bozukluklardır. Bu başlık altında yapısal fonksiyonel, metabolik ve kalıtımsal durumları içeren çok sayıda farklı anomali bulunmaktadır. Bu anomalilerin çoğunun nedeni bilinmemektedir. Bazı anomaliler bebek ölümüne neden olabilirken bazıları sadece kozmetik kaygılara yol açabilir 1 . Anomaliler majör ve minör anomaliler olmak üzere sınıflandırılabilirler. Konjenital minör anomaliler sağlıklı yeni doğanların yaklaşık %15-20'sinde sıklıkla yüzde ve ellerde ortaya çıkar. Preauriküler akrokordon (et benleri), sinüs (pit), sakral gamze (dimple), asimetrik ağlayan yüz, tek transvers palmar deri çizgisi ve sütlü kahve rengi maküller yeni doğan bebeklerde sık rastlanan minör anomalilerdir. Sağlıklı bebeklerde iki minör anomalinin bulunması halinde majör anomali görülme riski yaklaşık %10'dur 2 . Belirli minör anomalilerin prevelansı bazı etnik gruplarda daha yüksek olabilmektedir. Minör anomalilerin saptanması önemli malformasyonların tanınmasında ipucu sağlayabilmektedir. Bazen de sendromlara eşlik etmesi bakımından önem taşırlar 3 . Bu makalede, kulak önünde skin tag (akrokordon), sinüs, gözde limbal dermoid, gövdede hemanjiyom ve sakral gamzenin eşlik ettiği multipl minör anomalili olguyu nadir görülen birliktelikleri nedeniyle sunuyoruz.

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“…A congenital facial nerve paralysis, although other cranial nerves such as the Ⅲ, Ⅳ, Ⅴ, Ⅷ can be involved, is presented within the Möbius syndrome. The reported prevalence of this syndrome is about 1/150000 live births [9][10][11][12] . It is reported to be due to hypoplasia of the motor nuclei of the cranial nerves within the brainstem, probably due to a hypoxic-ischemic encephalopathy [10] .…”

Section: Epidemiology and Etiopathogenesismentioning

confidence: 99%

“…It is reported to be due to hypoplasia of the motor nuclei of the cranial nerves within the brainstem, probably due to a hypoxic-ischemic encephalopathy [10] . Those affected by Goldenhar syndrome (hemifacial microsomia, with a spectrum of congenital malformations involving the structures derived from the first and second branchial arch) can also present a congenital facial paralysis [11] . Congenital pseudobulbar palsy (Syringobulbia) is a condition that clinically manifests with facial paralysis, dysphagia and speech difficulties, while in the Arnold-Chiari syndrome, congenital facial paralysis is usually associated to other cranial nerves paralysis (especially the Ⅵ one) due to malformations of the posterior fossa that allow herniation of brain structures through the foramen magnum [12] .…”

Section: Epidemiology and Etiopathogenesismentioning

confidence: 99%

See 1 more Smart Citation

Facial Nerve Paralysis in Children

Licameli¹,

Tunkel²

2013

Pediatric Otorhinolaryngology

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Facial nerve palsy is a condition with several implications, particularly when occurring in childhood. It represents a serious clinical problem as it causes significant concerns in doctors because of its etiology, its treatment options and its outcome, as well as in little patients and their parents, because of functional and aesthetic outcomes. There are several described causes of facial nerve paralysis in children, as it can be congenital (due to delivery traumas and genetic or malformative diseases) or acquired (due to infective, inflammatory, neoplastic, traumatic or iatrogenic causes). Nonetheless, in approximately 40%-75% of the cases, the cause of unilateral facial paralysis still remains idiopathic. A careful diagnostic workout and differential diagnosis are particularly recommended in case of pediatric facial nerve palsy, in order to establish the most appropriate treatment, as the therapeutic approach differs in relation to the etiology.

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Goldenhar's Syndrome (Oculo-Auriculo-Vertebral Dysplasia) with Congenital Facial Nerve Palsy

Cited by 40 publications

References 0 publications

Goldenhar syndrome- A case report

Goldenhar syndrome- A case report

A patient with multiple skin tags, preauricular pit, limbal dermoid: Atypic Goldenhar syndrome

Facial Nerve Paralysis in Children

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