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Case Report
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| Umblical hernia, hypertelorism, sensorineural deafness: Is it Donnai-Barrow syndrome? | ||||||
| Serap Tutgun Onrat1, Yaşar Sivaci2, Ersel Onrat3, Tülay Köken4 | ||||||
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1Associate Professor, Department of Medical Geneticts, Faculty of Medicine, Afyon Kocatepe University, Afyonkarahisar, Turkey.
2Associate Professor, Department of Medical Geneticts, Faculty of Medicine, Afyon Kocatepe University, Afyonkarahisar, Turkey. 3Associate Professor & Head, Department of Cardiology, Faculty of Medicine, Afyon Kocatepe University Afyonkarahisar, Turkey. 4Professor & Head, Department of Biochemistry, Faculty of Medicine, Afyon Kocatepe University Afyonkarahisar, Turkey. | ||||||
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| How to cite this article: |
| Onrat ST, Sivaci Y, Onrat E, Köken T. Umblical hernia, hypertelorism, sensorineural deafness: Is it Donnai-Barrow syndrome? International Journal of Case Reports and Images 2012;3(12):70–73. |
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Abstract
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Introduction:
Donnai-Barrow syndrome is a rare autosomal recessive disorder first described in 1993 and characterized by diaphragmatic hernia, hypertelorism, agenesis of the corpus callosum and deafness.
Case Report: A 23-year-old female with clinical features similar to Turner patients were sent to our department by cardiology department. The main features were umblical hernia, hypertelorism (interpupillary distance 45 mm), and sensorineural deafness. Other findings included mid-face hypoplasia, a broad forehead, exotropia, frontal bossing and wide anterior fontanel, down slanting palpebral fissures, short nose with a broad tip, cubitis valgus and posterior rotated ears, webbed neck and short stature (height - 144 cm, weight - 47.5 kg). Magnetic resonance imaging (MRI) scan of the brain confirmed arachnoid cyst, cervical spinal stenosis (thought to be secondary to hydrocephalus) and absent corpus collosum. Autosomal recessive inheritance was suspected because patient's parents were also first cousins. Cytogenetic analysis demonstrated normal karyotype (46, XX). Conclusion: We describe a female patient who shares identical characters to the patients described by Donnai and Barrow. Although our patient has got a large number of malformations, her karyotype was normal, which makes this case extremely interesting. Such patient's have moderate levels of mental life which is consonant with the disease, and the patients can adapt to social life. | |
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Keywords:
Donnai-Barrow syndrome, Autosomal resessive inheritance, Normal karyotype, Umblical hernia, Hearing loss
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Author Contributions
Serap Tutgun Onrat – Substantial contributions to conception and design, acquisition of data, Cytogenetical Analysis and interpretation of data, Drafting the article, revising it critically for important intellectual content, Final approval of the version to be published Yaşar Sivaci – Substantial contributions to conception and design, acquisition of data, Drafting the article, revising it critically for important intellectual content, Final approval of the version to be published Ersel Onrat – Drafting the article, revising it critically for important intellectual content, Final approval of the version to be published Tülay Köken – Acquisition Biochemical data, Drafting the article, revising it critically for important intellectual content, Final approval of the version to be published |
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Guarantor of submission
The corresponding author is the guarantor of submission. |
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Source of support
None |
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Conflict of interest
Authors declare no conflict of interest. |
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Copyright
© Serap Tutgun Onrat et al. 2012; This article is distributed the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any means provided the original authors and original publisher are properly credited. (Please see Copyright Policy for more information.) |
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