A new autosomal recessive oto-facial syndrome with midline malformations.

Megarbane A; Chouery E; Rassi S; Delague V

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A new autosomal recessive oto-facial syndrome with midline malformations.

机译：一种具有中线畸形的常染色体隐性耳面综合征。

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Two sisters from a Lebanese family presented with slight developmental delay, short stature, congenital microcephaly, frontal bossing, mild hyperplastic supra-orbital ridges, broad nasal root, small dysplastic low-set ears, high arched palate, short neck, and hearing impairment. In addition, the oldest affected sister had esophageal atresia and the other sister had cleft palate. Temporal bone abnormalities included hypoplasia of the external auditory canal, small middle ear cavity, abnormal ossicles, and inner ear malformations with enlarged vestibular acqueducts. Differential diagnosis is discussed, and the possibility of a newly recognized autosomal recessive syndrome is raised.

机译：黎巴嫩一家的两个姐妹表现出轻微的发育迟缓，身材矮小，先天性小头畸形，额突突，轻度增生的眶上脊，鼻根宽，小增生的低固定耳朵，上颚弓高，脖子短和听力障碍。此外，受影响最大的姐姐患有食管闭锁，另一位姐姐患有c裂。颞骨异常包括外耳道发育不全，小中耳腔，小骨异常以及内耳畸形伴前庭水管增大。讨论了鉴别诊断，并增加了新认识到的常染色体隐性遗传综合征的可能性。

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来源
《American journal of medical genetics, Part A》 |2005年第4期|共4页
作者
Megarbane A; Chouery E; Rassi S; Delague V;
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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
关键词
Abnormalities; Multiple; Ear; Face; Genes; Recessive; 畸形; 多发性; 耳; 面部; 基因; 隐性;

机译：Abnormalities;Multiple;Ear;Face;Genes;Recessive;畸形;多发性;耳;面部;基因;隐性;

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1. A new autosomal recessive oto-facial syndrome with midline malformations. [J] . Megarbane A, Chouery E, Rassi S, American journal of medical genetics, Part A . 2005,第4期

机译：一种具有中线畸形的常染色体隐性耳面综合征。
2. Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. [J] . Verloes A, Bremond Gignac D, Isidor B, American journal of medical genetics, Part A . 2006,第12期

机译：支气管上皮性痴呆（BMR）综合征：拟议的Ohdo综合征的临床分类，以及两种新的BMR综合征的描述，一种是X连锁的，另一种是常染色体隐性的。
3. Autosomal recessive myopathy associated with cataracts and learning difficulties caused by INPP5K mutations: a new syndromic gene linking four overlapping rare recessive neuromuscular disorders [J] . Roos A., Senderek J., Cox D., Neuromuscular disorders: NMD . 2017,第Suppla2期

机译：与Inpp5K突变引起的白内障和学习困难的常染色体隐性肌病：一种新的综合征基因，其连接四个重叠的罕见隐性神经肌肉障碍
4. Autosomal recessive ichthyosis in golden retriever dogs: distribution and frequency of the PNPLA1 mutant allele in different populations [C] . Eric Guaguere, Anne Thomast, Anais Grail, World Congress of Veterinary Dermatology . 2013

机译：金毛犬常染色体隐性的IChthyosisis：PNPLA1突变等位基因在不同种群中的分布和频率
5. In search of a novel autosomal recessive cause of non syndromic intellectual disability. [D] . Saleh, Shamsah H. 2015

机译：在寻找一种新的常染色体隐性非综合征性智力障碍的病因。
6. Late infantile autosomal recessive myotonia mental retardation and skeletal abnormalities: a new autosomal recessive syndrome. [O] . A Richieri-Costa, S M Garcia da Silva, O Frota-Pessoa 1984

机译：晚期婴儿常染色体隐性肌强直智力低下和骨骼异常：一种新的常染色体隐性综合征。
7. Late infantile autosomal recessive myotonia, mental retardation, and skeletal abnormalities: a new autosomal recessive syndrome. [O] . Richieri-Costa, A, Garcia da Silva, S M, Frota-Pessoa, O 1984

机译：晚期婴儿常染色体隐性肌强直，智力低下和骨骼异常：一种新的常染色体隐性综合征。

A new autosomal recessive oto-facial syndrome with midline malformations.

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