Okuloaurikulovertebral Spektrum (Goldenhar Sendromu)

Abstract

Goldenhar sendromu veya okuloaurikulovertebral spektrum (OAVS), preaurikuler skin tag, mikroşia, fasiyel asimetri, göz anomalileri, farklı boyut ve şekildeki vertebra anomalileri ile karakterizedir. Tanı için kulak anomalileri şarttır. Kraniofasiyel anomalilere ek olarak kardiyak, genitoüriner ve santral sinir sistemi anomalileri de görülebilmektedir. Sendromun genellikle birinci ve ikinci brankial ark anomalileri nedeniyle oluştuğu düşünülmektedir. Etyolojinin heterojen olmasına bağlı olarak sendromun fenotipik bulguları da değişkenlik göstermektedir. Burada sol hemifasiyel mikrosomi, depresör anguli oris kası hipoplazisi, mikroşia, işitme kaybı ve ventriküler septal defekt (VSD) saptanan bir yenidoğan olgu sunulmuştur.

Keywords

• Goldenhar sendromu, kraniofasyal anomaliler, yüz asimetrisi

OKULOAURİKULOVERTEBRAL SPEKTRUM (GOLDENHAR SENDROMU)

Abstract

Goldenhar syndrome or oculoauriculovertebral spectrum (OAVS) is characterized by preauricular skin tags, microtia, facial asymmetry, ocular abnormalities and vertebral anomalies of different size and shape. The presence of anomalies of the ear is necessary for diagnosis. In addition to craniofacial anomalies, there may be cardiac, genitourinary and central nervous system defects. This syndrome is usually thought to be caused by abnormalities of the first and second branchial arches. The phenotypical findings of this syndrome are variable due to heterogenous etiology. We report here a newborn with OAVS presented with left hemifacial microsomia, hypoplasia of depressor anguli oris muscle, microtia, deafness and ventricular septal defect and diognosed OAVS

Keywords

• Goldenhar Syndrome, craniofacial abnormalities, facial asymmetry

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