• Maxillofacial Plastic and Reconstructive Surgery
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• v.21 no.2
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• pp.220-224
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• 1999

The acrofacial dysostosis(AFD) is a rare heterogenous disorders combining varying severities of mandibulofacial dysostosis(MFD) with pre and/or post axial limb abnormalities. The Nager syndrome is characterized by preaxial limb defects whereas Miller syndrome is characterized by post axial limb defects. Our AFD case is a 14-year old female. She showed malar hypoplasia, cleft lip & palate(Rt, Lt side), wide nasal bridge, telecanthus. Her right thumb was abscent and middle phalanx, radius, carpal bones of right hand were hypoplastic, and metatarsus varus was present. She showed normal stature and intelligence.

• Journal of Genetic Medicine
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• v.9 no.2
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• pp.89-92
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• 2012

Campomelic dysplasia (CMD) is a rare, often lethal, genetic disorder characterized by multiple congenital anomalies and abnormal development of the reproductive organs in males. Mutations in the SOX9 gene are known to cause CMD. We present a Korean CMD girl with a normal 46,XX karyotype and a female reproductive organ phenotype. She was born at 2.35 kg at 38 weeks of gestation and showed characteristic phenotypes, including cleft palate, micrognathia, hypertelorism, flat nasal bridge, congenital bowing of limbs, hypoplastic scapulae, deformed pelvis, and 11 pairs of ribs. She also had an atrioseptal defect of the heart and marked laryngotracheomalacia requiring tracheostomy and tracheopexy. SOX9 mutation analysis revealed the presence of a novel nonsense mutation, $p.Gln369^*$, and the patient was genetically confirmed to have CMD. Although she showed marked failure to thrive and neurodevelopmental delay, she is now 40 months of age and is the only surviving patient with CMD in Korea.

• Clinical and Experimental Pediatrics
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• v.58 no.8
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• pp.313-316
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• 2015

Interstitial deletions involving the chromosome band 15q22q24 are very rare and only nine cases have been previously reported. Here, we report on a 12-day-old patient with a de novo 15q22q23 interstitial deletion. He was born by elective cesarean section with a birth weight of 3,120 g at 41.3-week gestation. He presented with hypotonia, sensory and neural hearing loss, dysmorphism with frontal bossing, flat nasal bridge, microretrognathia with normal palate and uvula, thin upper lip in an inverted V-shape, a midline sacral dimple, severe calcanovalgus at admission, and severe global developmental delay at 18 months of age. Fluorescence in situ hybridization findings confirmed that the deleted regions contained at least 15q22. The chromosome analysis revealed a karyotype of 46,XY,del(15) (q22q23). Parental chromosome analysis was performed and results were normal. After reviewing the limited literature on interstitial 15q deletions, we believe that the presented case is the first description of mapping of an interstitial deletion involving the chromosome 15q22q23 segment in Korea. This report adds to the knowledge of the clinical phenotype associated with the 15q22q23 deletion.

• Imaging Science in Dentistry
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• v.41 no.4
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• pp.177-181
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• 2011

Pyknodysostosis is a rare autosomal recessive disorder characterized by the post natal onset of short limbs, short stature, and generalized hyperostosis along with acro-osteolysis with sclerosis of the terminal phalanges, a feature that is considered essentially pathognomonic. Other features include persistence of fontanelles, delayed closure of sutures, wormian bones, absence of frontal sinuses, and obtuse mandibular gonial angle with relative mandibular prognathism. We report a case of 17-year-old girl who presented with a chief complaint of retention of deciduous teeth. General physical examination demonstrated short stature, frontal and parietal bossing, depressed nasal bridge, beaked nose, hypoplastic midface, wrinkled skin over the finger tips, and nail abnormalities. Radiographs showed multiple impacted permanent and supernumerary teeth, hypoplastic paranasal sinuses with acro-osteolysis of terminal phalanges, and open fontanelles, and sutures along with wormian bones in the lambdoidal region.

• The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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• v.15 no.1
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• pp.162-175
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• 2002

Aromatherapy is used in many diseases nowdays. And, Aromatherapy is similar to historical oriental medicine. Moreover, Aroma is a popular alternative medicine like oriental medicine in these days. We used for all kinds of diseases with aroma herbs, especially in ENT and dermatological disese. We must be a bridge over oriental and western medicine with aromatherapy, because it will help reduce stress in pschosomatic disorder. We have to accept aromatherapy as oriental medicine paradigm for better holistic medicine. Method :We analyzed 20 herbs difference and similarity both aroma herb and oriental herb. We reseach for a scientific name, family, therapeutic region, efficacy, perfumery note, nature. The results were as follows: 1. Most of herbs are similar to each other in the treatment. Top, middle, bottom is similar to sam-cho(三焦) sang-cho, zhong-cho, ha-cho, and But futher reseach is needed for development of Oriental medicine. 2. We find out much similarity between oriental herbs and aromatic herbs and qi-mi ron(氣味論) is useful to analyze them 3. We find out difference mechanism between GI absortion and nasal inhalation. 4. Other Aroma herbs must be analyzed by oriental oriental medical thought, for example, seung-gang-bu-chim(昇降浮沈), gui-gyong(歸經), and so on. 5. Aromatic oriental medicine ways are developed like aromatic therapy.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.7 no.2
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• pp.119-122
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• 2011

Achondroplasia is one of the most common types of dwarfism and is inherited as an autosomal dominant trait. Clinical features of achondroplasia include disproportionate short stature with normal trunk length, shortening of the extremities, bowing of the lower extremities, short stubby trident hands, spinal stenosis and lumbar lordosis. Characteristic craniofacial features include macrocephaly, prominent forehead, depressed nasal bridge, maxillary hypoplasia, otolaryngeal system dysfunction, and foramen magnum stenosis. These characteristics may lead to number of complications including hydrocephalus, apnea, upper-airway obstruction, otitis media, sinusitis and dental malocclusion. Apart from these features, the affected children have good general health and normal intelligence. Dentists should be aware of the clinical characteristics of achondroplasia and the complications that may arise as a result of this disorder. This case report is to present dental treatment of a patient with achondroplasia under general anesthesia and discuss special considerations.

• Journal of Genetic Medicine
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• v.7 no.2
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• pp.145-150
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• 2010

Acrodysostosis is an extremely rare disorder characterized by short fingers and toes with peripheral dysostosis, nasal hypoplasia, and mental retardation. We report a 16-year-old Korean boy with acrodysostosis who had characteristic clinical features and cervical spine stenosis manifested by neurologic symptoms. On presentation, he complained of difficulty in raising his arms, and suffered from intermittent pain and weakness in both upper extremities. He had short stature and dysmorphic facial features, including a broad, depressed nasal bridge, small, upturned nose, bilateral epicanthal folds, and mild hypertelorism. Moderate mental retardation and sensorineural hearing loss in both ears were also present. Radiological findings included broad, short metacarpals and phalanges with cone-shaped epiphyses, bilateral Madelung deformities, hypertrophied first metatarsals, and thickening of the calvarium. Magnetic resonance imaging findings included stenosis of the cervical spine, platybasia with compression into the cervicomedullary junction, and downward displacement of the cerebellar tonsils. Here, we report a case of acrodysostosis with symptoms and signs of cervical spinal stenosis first in Korea. If it is diagnosed in the early stages, possible life-threatening complications, including spinal canal stenosis, can be managed properly and permanent neurologic sequelae might be avoided. Therefore, it is important to consider acrodysostosis in the differential diagnosis of peripheral dysostosis.

• Clinical and Experimental Pediatrics
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• v.46 no.5
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• pp.510-513
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• 2003

Duplication of chromosome 7q has been reported as either partial or complete. Partial 7q duplication was first described by Carpentier in 1972. Pure partial duplication of the long arm of chromosome 7 is extremely rare and only 16 cases with a pure partial duplication of different 7q segment have been described in the literature. Pure partial duplication of the long arm of chromosome 7 is characterized by growth and developmental retardation, muscular hypotonia, distinct craniofacial dysmorphic features, a short neck and skeletal abnormalities. A 3 month-old male was referred to our department of Pediatrics because of dyspnea, hypotonia and delayed development. He shows growth and developmental delay, hypertelorism, a depressed nasal bridge, low set ears, a short neck and muscular hypotonia. Karyotype revealed 46, XY, dup(7)(q36q33) by GTC-banding. We report a case of a partial inverted duplication of chromosome 7q.

• Clinical and Experimental Pediatrics
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• v.46 no.6
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• pp.597-601
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• 2003

Trisomy 9 mosaic syndrome is a rarely reported chromosomal abnormality with high incidence of intrauterine growth retardation and perinatal death. Even a baby lives, he has severe mental retardation and significant malformations. The incidence and severity of malformations and mental retardation correlate with the percentage of trisomic cells in the different tissues. The characteristic craniofacial abnormalitis are narrow bifrontal diameter, up-slanted and short palpebral fissures, a prominent nasal bridge with a short root, a prominent lip covering a receding lower lip, low-set, posteriorly rotated, and misshapen ears. Ventricular septal defect is a main cardiac abnormality. Bony hypoplasia and dislocated hips have been frequently reported. Central nervous system, hepatobiliary, gastrointestinal and genitourinary abnormalities also had been reported. The authors report a baby who had characteristic abnormalities of trisomy 9 mosaicism with narrow temples, up-slanted palpebral fissures, a bulbous nose, thin and protruding upper lip, low set and malformed ears, hyperextended wrist and overlapping fingers. Cytogenetic analysis performed to confirm the chromosomal abnormality revealed trisomy 9, low level mosaic type.

• Journal of IKEEE
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• v.11 no.1 s.20
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• pp.24-29
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• 2007

In this paper, we developed a Mac-Yule measurement system which consider psychological stable state of patience. The developed system consist with a hardware device that can derive a EEG, respiration and pulse wave, and a software which acquire a biological signal and signal processing The EEGs are derived with bipolar method from frontal head. The respiration signals obtain from nasal front with a transducer which consist with thermistor bridge. The pulse waves are detected from earlobe with photoplethysmograph method. A power spectrum of EEG are used as the decision parameters of psychological stable state of patience. The decision of Mac-Yule are defined as origin text method that of numbers of pulse to 1 respiration period. As the results of experiment with developed system, we could have a spectrum band discretion of EEG signal, stable respiration signal detection and automatic gain controlled pulse signal with realtime. And then, we could detect Mac-Yules from processed signals.