Goldenhar syndrome (oculoauriculovertebral dysplasia): report of one case.
Goldenhar syndrome, also known as oculoauriculovertebral dysplasia, is an uncommon condition, characterized by a combination of anomalies: epibulbar dermoids or lipodermoids, preauricular appendices, malformation of the ears, hemifacial microsomia, vertebral anomalies, and others. The etiology of this disease has remained unclear; factors including chromosomal abnormalities, maternal diabetes mellitus or drug use, and influence of environment during pregnancy have been proposed. Here, we describe a case of Goldenhar syndrome in a 1-day-old female newborn, who presented with right external ear atresia, left preauricular appendices, cleft-like extension of the right oral angle, mandibular hypoplasia and relatively small hands. The literature on Goldenhar syndrome is briefly reviewed.
Ng
Yan-Yan
YY
Department of Pediatrics, Chung Shan Medical University Hospital, No. 110 Chien-Kuo N. Road, Sec. 1, Taichung 402, Taiwan.
Hu
Jui-Ming
JM
Su
Pen-Hua
PH
Chen
Jia-Yuh
JY
Yang
Ming-Shiang
MS
Chen
Suh-Jen
SJ
D005260:Female; D006053:Goldenhar Syndrome / Q000150:complications / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D006311:Hearing Disorders / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D013921:Thrombocytopenia / Q000209:etiology