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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Opitz C syndrome: Trigonocephaly, mental retardation and craniofacial dysmorphism
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Opitz C syndrome: Trigonocephaly, mental retardation and craniofacial dysmorphism

机译：Opitz C综合征：三角头畸形，智力低下和颅面畸形

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We describe a 4-year-old female child with a dysmorphic and neurological syndrome of trigonocephaly, mental and psychomotor retardation and dysmorphic facial features. The anomalies of the face were the following: slight upward palpebral fissures, ocular hypertelorism, depressed nasal bridge, hypoplastic nasal root, short nose with anteverted nares; small low set ears, smooth broad philtrum and thin upper lip. The patient had important cerebral anomalies with diffuse alterations in white matter that caused developmental delay with verbal and nonverbal disabilities and severe learning difficulties. This clinical presentation is compatible with the diagnosis of the Opitz C syndrome, a heterogeneous disease of multiple neurological and craniofacial abnormalities. The physical sign more detectable and notorious is the trigonocephaly that is manifested by a prominent metopic suture, but also can be distinguished the other minor facial anomalies that are found in the eyes, nose, mouth and ears that constitute the phenotype of the disorder. The neurological development was altered by the compression of the cerebral frontal lobes with narrowing of this cerebral area, producing hypotonia with muscle weakness, epileptic episodes manifested by seizures, and neurobehavioral and neurocognitive disorders. This syndrome is a very rare genetic disorder with autosomal recessive inheritance trait; our patient had no chromosomal abnormality in the usual karyotype but the fluorescence in situ hybridization (FISH technique) showed a balanced translocation between the chromosomes two and eleven: t(2:11) (q32.2/q24).
机译：我们描述了一个四头畸形，精神和精神运动发育迟滞和面部畸形的畸形和神经系统综合征的4岁女童。面部异常如下：睑上裂轻微向上，眼部玻璃体肥大，鼻梁凹陷，鼻根发育不良，鼻孔短而鼻孔狭窄。小而低落的耳朵，光滑的宽发t和薄薄的上唇。该患者有重要的脑部异常，白质弥漫性改变，导致发育迟缓，伴有言语和非言语障碍以及严重的学习困难。该临床表现与Opitz C综合征的诊断兼容，该综合征是多种神经系统和颅面异常的异质性疾病。三角脑畸形更容易检测和臭名昭著，这是由突出的异位缝合线表现出来的，但也可以区分出在眼，鼻，口和耳中发现的构成该疾病表型的其他轻微面部畸形。神经系统的发育因大脑额叶的压缩而使该大脑区域变窄而发生改变，产生了肌无力的肌张力减退，癫痫发作所表现的癫痫发作以及神经行为和神经认知障碍。该综合征是一种非常罕见的遗传性疾病，具有常染色体隐性遗传特征。我们的患者在通常的核型中没有染色体异常，但是荧光原位杂交（FISH技术）显示了在2号和11号染色体之间的平衡易位：t（2:11）（q32.2 / q24）。

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