• Clinical and Experimental Pediatrics
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• v.61 no.12
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• pp.403-406
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• 2018

Floating-Harbor syndrome is a rare autosomal dominant genetic disorder associated with SRCAP mutation. To date, approximately 50 cases of Floating-Harbor syndrome have been reported, but none have been reported in Korea yet. Floating-Harbor syndrome is characterized by delayed bony maturation, unique facial features, and language impairment. Here, we present a 6-year-old boy with a triangular face, deep-set protruding eyes, low-set ears, wide nose with narrow nasal bridge, short philtrum, long thin lips, clinodactyly, and developmental delay that was transferred to our pediatric clinic for genetic evaluation. He showed progressive delay in the area of language and cognition-adaption as he grew. He had previously undergone chromosomal analysis at another hospital due to his language delay, but his karyotype was normal. We performed targeted exome sequencing, considering several syndromes with similar phenotypes. Library preparation was performed with the TruSight One sequencing panel, which enriches the sample for about 4,800 genes of clinical relevance. Massively parallel sequencing was conducted with NextSeq. An identified variant was confirmed by Sanger sequencing of the patient and his parents. Finally, the patient was confirmed as the first Korean case of Floating-Harbor syndrome with a novel SRCAP (Snf2 related CREBBP activator protein) mutation (c.7732dupT, p.Ser2578Phefs*6), resulting in early termination of the protein; it was not found in either of his healthy parents or a control population. To our knowledge, this is the first study to describe a boy with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing in Korea.

• Journal of Korean Academy of Oral and Maxillofacial Radiology
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• v.20 no.2
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• pp.253-264
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• 1990

The purpose of this study was to estimate the distribution of absorbed doses of each important organs of head and neck region in panoramic radiography. Radiation dosimetry at internal anatomic sites and skin surfaces of phantom (RT-210 Humanoid Head & Neck Section/sup R/) was performed with lithium fluoride (TLD-100/sup R/) thermoluminescent dosimeters according to change of kilovoltage (65kVp, 75kVp and 85kVp) with 4 miliamperage and 20 second exposure time. The results obtained were as follows; Radiation absorbed doses of internal anatomic sites were presented the highest doses of 1.04 mGy, 1.065 mGy and 2.09 mGy in nasopharynx, relatively high doses of 0.525 mGy, 0.59 mGy and 1.108 mGy in deep lobe of parotid gland, 0.481 mGy, 0.68 mGy and 1.191 mGy in submandibular gland. But there were comparatively low doses of 0.172 mGy and 0.128 mGy in eyes and thyroid gland that absorbed dose was estimated at 85kVp. Radiation absorbed doses of skin surfaces were presented the highest doses of 1. 263 mGy, 1.538 mGy and 2.952 mGy in back side of first cervical vertebra and relatively high doses of 0.267 mGy, 0.401 mGy and 0.481 mGy in parotid gland. But there were comparatively low doses of 0.057 mGy, 0.068 mGy and 0.081 mGy in philtrum and 0.059 mGy in middle portion of chin that absorbed dose was estimated at 85kVp. According to increase of kilovoltage, the radiation absorbed doses were increased 1.1 times when kilovolt age changes from 65kVp to 75kVp and 1.9 times when kilovolt age changes from 75kVp to 85kVp at internal anatomic sites. According to increase of kilovoltage, the radiation absorbed doses were increased 1.3 times when kilovolt age changes from 65kVp to 75kVp and 1.6 times when kilovoltage changes from 75kVp to 85kVp at skin surfaces.