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Early diagnosis of branchio-oculo-facial syndrome in a patient with inner ear malformation and mild ocular involvement

机译：内耳畸形并轻度眼部受累的患者的眼球眼综合征的早期诊断

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Case report

机译：案例报告

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Lugli Licia; Just Walter; Genovese Elisabetta; Palma Silvia; Ferrari Fabrizio; Percesepe Antonio;
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年度 2015
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正文语种 eng
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1. Early diagnosis of branchio-oculo-facial syndrome in a patient with inner ear malformation and mild ocular involvement [J] . Lugli Licia, Just Walter, Genovese Elisabetta, Clinical dysmorphology . 2015 ,第1期

机译：内耳畸形并轻度眼部受累的患者眼球-眼-脸综合征的早期诊断
2. Middle and inner ear malformations in mutation-proven branchio-oculo-facial (BOF) syndrome: Case series and review of the literature [J] . CarterM.T., BlaserS., PapsinB., American journal of medical genetics, Part A . 2012 ,第8期

机译：经突变证实的支眼-眼面部（BOF）综合征的中耳和内耳畸形：病例系列和文献综述
3. A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child. [J] . Tekin M, Sirmaci A, Yuksel Konuk B, American journal of medical genetics, Part A . 2009 ,第3期

机译：聋儿中复杂的TFAP2A等位基因与分支眼面部综合征和内耳畸形相关。
4. Cochlear implantation in cases with congenital deformations and rare genetic syndromes: Goldenhar and Branchio-Oculo-Facial [C] . Porowski M., Skarzynski H., Mrowka M., European Symposium on Paediatric Cochlear Implantation . 2011

机译：先天性变形和稀有遗传综合征的耳蜗植入：Goldenhar和Branchio-Oculo-Facial
5. Posterior fossa malformations and other CNS abnormalities observed in patients diagnosed with Beckwith-Wiedemann Syndrome [D] . Gardiner, Kate 2011

机译：在诊断为Beckwith-Wiedemann综合征的患者中观察到后颅窝畸形和其他CNS异常
6. Encephalocraniocutaneous lipomatosis (Haberland syndrome): A mild case with bilateral cutaneous and ocular involvement [O] . Jonathan Banta, Knox Beasley, Todd Kobayashi, 2016

机译：脑颅皮脂肪瘤病（哈伯兰综合征）：轻度病例双侧皮肤和眼部受累
7. Encephalocraniocutaneous lipomatosis (Haberland syndrome): A mild case with bilateral cutaneous and ocular involvement [O] . Banta Jonathan, Beasley Knox, Kobayashi Todd, 2016

机译：脑颅皮脂肪瘤病（哈伯兰综合征）：轻度病例，双侧皮肤和眼部受累

Early diagnosis of branchio-oculo-facial syndrome in a patient with inner ear malformation and mild ocular involvement

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