• Investigative Magnetic Resonance Imaging
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• 제23권2호
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• pp.167-171
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• 2019

$M\ddot{o}bius$ syndrome is a rare congenital condition, characterized by abducens and facial nerve palsy, resulting in limitation of lateral gaze movement and facial diplegia. However, to our knowledge, there have been few studies on evaluation of cranial nerves, on MR imaging in $M\ddot{o}bius$ syndrome. Herein, we describe a rare case of $M\ddot{o}bius$ syndrome representing limitation of lateral gaze, and weakness of facial expression, since the neonatal period. In this case, high-resolution MR imaging played a key role in diagnosing $M\ddot{o}bius$ syndrome, by direct visualization of corresponding cranial nerves abnormalities.

• Clinical and Experimental Pediatrics
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• 제60권9호
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• pp.282-289
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• 2017

Purpose: Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay. Methods: We included 27 children who fulfilled the following criteria: Korean children under 6 years with global developmental delay; children who had at least one or more physical or neurological problem other than global developmental delay; and patients in whom both array CGH and G-banded karyotyping tests were performed. Results: Fifteen male and 12 female patients with a mean age of $29.3{\pm}17.6months$ were included. The most common physical and neurological abnormalities were facial dysmorphism (n=16), epilepsy (n=7), and hypotonia (n=7). Pathogenic copy number variation results were observed in 4 patients (14.8%): 18.73 Mb dup(2)(p24.2p25.3) and 1.62 Mb del(20p13) (patient 1); 22.31 Mb dup(2) (p22.3p25.1) and 4.01 Mb dup(2)(p21p22.1) (patient 2); 12.08 Mb del(4)(q22.1q24) (patient 3); and 1.19 Mb del(1)(q21.1) (patient 4). One patient (3.7%) displayed a variant of uncertain significance. Four patients (14.8%) displayed discordance between G-banded karyotyping and array CGH results. Among patients with normal array CGH results, 4 (16%) revealed brain anomalies such as schizencephaly and hydranencephaly. One patient was diagnosed with Rett syndrome and one with $M{\ddot{o}}bius$ syndrome. Conclusion: As chromosomal microarray can elucidate the cause of previously unexplained developmental delay, it should be considered as a first-tier cytogenetic diagnostic test for children with unexplained developmental delay.