Epibulbar Dermoid and Type 1 Duane Syndrome Coexistence in a Patient with Goldenhar Syndrome
نویسندگان
چکیده
منابع مشابه
Goldenhar syndrome and hereditary tyrosinemia type 1.
We report a case of Goldenhar syndrome and hereditary tyrosinemia type 1 (HTT1), to our knowledge an association not previously described. This case further increases the diversity of observations and clinical descriptions of patients with this complex syndrome. We discuss pathogenetic aspects, and demonstrate further evidence of the effectiveness of 2-(2-nitro-4-trifluoromethyl benzoyl)-1,3-cy...
متن کاملepibulbar dermoid cyst in association with vacterl or vater syndrome
purpose: to present a case of unilateral epibulbar dermoid cyst in a girl with vacterl syndrome. case report: a 4-year-old girl was referred with a white, soft and painless mass in the inferotemporal limbus of the left eye having presented since birth. the patient was healthy with normal growth. other ocular examinations were normal. systematic review revealed a group of abnormalities including...
متن کاملDextrocardia and Hiatal Hernia in a Patient with Turner Syndrome
Turner syndrome is a sex-chromosome disorder occurring in one out of 2500 female births and characterized by growth retardation, gonadal dysgenesis and cardiovascular anomalies. The 45, XO karyotype is the most frequent type of this disease. Herein, we report on a 6-year-old girl with Turner syndrome and 45, XO karyotype presenting with short stature. She had dextrocardia and hiatal hernia. To ...
متن کامل[Goldenhar syndrome].
We present a report on 9 patients with Goldenhar's Syndrome, and the criteria used for the diagnosis. Familiar data and clinical characteristics. Are described and discussed with that of other authors. The medical literature about this syndrome shows a lack of uniformity on the criteria necessary to diagnose the syndrome, as well as the role of the pathogenic factors. The authors propose the ad...
متن کاملGoldenhar Syndrome
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-y...
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ژورنال
عنوان ژورنال: Turkiye Klinikleri Journal of Case Reports
سال: 2018
ISSN: 2147-9291
DOI: 10.5336/caserep.2017-57153