Goldenhar Syndrome: Case Report.

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.

Renal Anomalies in Neonates with Isolated Preauricular Tags / 소아과

PURPOSE: The aim of this study was to determine the role of renal ultrasonography in neonates with isolated preauricular tags. METHODS: We performed a retrospective study of 10,997 newborn infants delivered from January 1995 to June 2003 in Wonkwang University Hospital. Nineteen newborns born with isolated preauricular tags were assessed for renal anomalies by performing renal ultrasonography within one week after birth. The study group was compared with a control group of 25 healthy neonates without preauricular tags during the same period, also using renal ultrasonography. RESULTS: Preauricular tags were detected in 19 of 10,997(0.17%) neonates; 57.9% were found on the right side. Renal anomalies in neonates with isolated preauricular tags were detected in four infants (21.1%); this incidence was higher, but was not significant, compared with the control group. Types of anomalies were mild hydronephrosis of grade 1(3 cases) and 2(1 case) which were normalized within one year. CONCLUSION: Routine renal ultrasonography is not recommended for newborn infant with isolated preauricular tags.