• Clinical and Experimental Pediatrics
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• v.50 no.8
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• pp.789-793
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• 2007

Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is a rare autosomal dominant disorder characterized by variable manifestations, including multiple basal cell carcinomas, odontogenic keratocysts of the jaw, skeletal anomalies including scoliosis and bifid ribs, palmar and plantar pits, calcification of the falx cerebri, and biparietal frontal bossing. We report a case of a 9-year-old boy with the clinical features of basal cell nevus syndrome, in which a PTCH gene mutation was confirmed by DNA testing.

• Journal of Chest Surgery
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• v.21 no.4
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• pp.766-771
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• 1988

Von Recklinghausen`s neurofibromatosis, tuberous sclerosis and encephalotrigeminal angiomatosis[Sturge-Kalischer-Weber syndrome] are frequently classified under the heading of organic neurocutaneous syndromes. Both neurofibromatosis and tuberous sclerosis are believed to represent instances of simple autosomal dominant heredity. Multiple neurofibroma and cafe*-au-lait spots are the hallmarks of the van-Recklinghausen`s disease. The characteristic features of the fully developed syndrome are [1] pigmentation of the skin, including cafe*-au-lait spots, pigmented freckles and males, and occasionally a generalized darkening of the skin; [2] subcutaneous nodules and deep neurofibromatous tumors and diffuse plexiform growths of neural tissue; [3] skeletal anomalies, especially scoliosis; and [4] predilection to malignancy. In recent years cystic lung disease, usually of the so-called honeycomb lung variety, has been reported on several occasions in patients with tuberous sclerosis. This association has been shown to our sporadically as well as in members of a single family. Little attention has been paid to the presence of cystic lung disease in association with neurofibromatosis. Currently, most think of thoracic involvement in neurofibromatosis in terms of posterior mediastinal neuroma, pheochromocytoma, meningocele or, less commonly, parenchymal pulmonary neurofibromatosis. Author have experienced a case of von Recklinghausen`s disease. This case developed a huge neurofibroma in the both side thorax and invaded to the Lt. 7th rib.

• Journal of the korean academy of Pediatric Dentistry
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• v.35 no.4
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• pp.725-730
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• 2008

Nevoid basal cell carcinoma syndrome is an ecto-mesodermal polydysplasia with numerous manifestations that affect multiple organs. The syndrome is an autosomal dominant inherited, with a high penetration and visible expression. The syndrome is characterized by a series of associated anomalies such as cutaneous, dentofacial, skeletal, ophthalmologic, neurological, and genital anomalies. Generally, the jaw cysts are multiple odontogenic keratocysts, affecting any area of maxilla and mandible. Multiple odontogenic keratocysts of this syndrome are more recurrent than the keratocysts of non-syndrome, thus they are treated aggressively for complete removal. We report a case of multiple jaw cysts associated with nevoid basal cell carcinoma syndrome. In clinical and radiological examinations, frontal bossing, hypertelorism, mild mental retardation and two odontogenic keratocysts in both the maxilla and mandible were observed. Two cysts were treated by marsupialization. For the management of eruption of unerupted teeth, periodic recall check and orthodontic treatment are required.

• Korean Journal of Veterinary Research
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• v.31 no.4
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• pp.411-418
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• 1991

This study was carried out to investigate the amino acid and protein concentrations in amniotic fluid and the potency of the teratogenic effect of ethylenethiourea(2-imidazolidinethione, ETU) in the fetuses due to different dose amounts of this compound. The S.P.F. Sprague-Dawley female rats(10 weeks) were used in this study and these animals were divided into four groups; control group(25pregnant female rats), group I (dosed ETU from day 7 to day 17 of gestation at 10mg/kg/day), group II (dosed ETU from day 7 to day 17 of gestation at 30mg/kg/day), group III (dosed ETU from day 7 to day 17 of gestation at 50mg/kg/ day). 250mg/100mg ETU in group I, 750mg/100ml ETU in group II and 1,250mg/100ml ETU in group III were administered 4ml/kg 13.W by oral route. The results obtained were summarized as follows; 1. The anomalies of the external examination werf meningocele in the head, kinky tail, clubfoot and sharp tail.(Meningocele, in group III, significantly increased from control value at p<0.001). 2. The skeletal variations and delayed ossification were Lumbar ribs, asymmetric sternebrae, asymmetric 13th rib and delayed ossification of skull. Asymmetric sternebrae(group III ) was significantly increased from control value at p<0.05 and delayed ossification of skull (group II and III ) were significantly increased from control value at p<0.05 and p<0.01, respectively. 3. The internal soft tissue anomalies were hydroencephaly of 3th lateral ventricle, dilatation of ureter, dilatation of renal pelvis and cleft palate. (Hydroencephaly, 28.1% in group I, 88.3% in group II and 100% in group III ). 4. Protein values in amniotic fluids are not significantly decreased in 10mg/kg group but significantly(p<0.05) decreased in 30mg/kg group and 50mg/kg group from control group. 5. In the levels of amino acid in amniotic fluids, the levels of glntamic acid, iso-lencine, leucine, tyrosine and phenylalanine of 10mg/kg group are significantly decreased from control group. In 50mg/kg group, except for glycine, valine and methionine, all amino acid levels are significantly(p<0.05) decreased from control group.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.28 no.3
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• pp.222-228
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• 2006

Various methods have been used in the past to indirectly analyze the craniofacial region. Among these, the lateral and posterior-anterior cephalometircs are used for the evaluation of the dentofacial deformities. However, cephalometircs create inaccuracies because of the inherent enlargement and distortion of the image. The interpretation of cephalometric films is also problematic: the number of anatomic landmarks that can be identified accurately is limited, and the overlap of structures on a radiograph making locating these landmarks difficult. To overcome these problems, computed tomography(CT) has been recommended as an useful modality in the diagnosis, surgical planning, and follow-up of craniofacial anomalies. There is no significant enlargement or distortion of the image, overlap of structure, or tracing error. And the number of anatomic landmarks is vast. The purpose of this study was to examine the orbit and midfacial region using Occlusal Maxillary CT, consisted of slices parallel to the occlusal plane. Based on these CT scan, we provide the data that could be applied to monitor an individual patient's skeletal pattern and the guide to the maxillary osteotomy.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.13 no.2
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• pp.104-107
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• 2017

Kabuki syndrome is characterized by typical facial features (elongated palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild to moderate intellectual disability, and postnatal growth deficiency. A 6-year-old male with kabuki syndrome was referred from the local dental clinic for left facial swelling and dental caries on all primary molars. He was treated for acute periapical abscess with incision and drainage under physical restraint, and left maxillary second primary molar was extracted. Other caries treatment was performed under general anesthesia. As the syndrome involves many different medical problems, special cares should be considered. Dental treatment should be carried out in comprehensive consultation system.

• Clinical and Experimental Pediatrics
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• v.58 no.12
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• pp.478-483
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• 2015

Purpose: Information on the clinical features of lung abscess, which is uncommon in children, at hospitalization is helpful to anticipate the disease course and management. There is no report concerning lung abscess in Korean children. We aimed to identify the clinical characteristics of pediatric lung abscess and compare the difference between primary and secondary abscess groups. Methods: The medical records of 11 lung abscess patients (7 males and 4 females) from March 1998 to August 2011 at two university hospitals were retrospectively reviewed. The clinical characteristics, symptoms, underlying disease, laboratory and radiologic findings, microbiological results, and treatments were examined. Results: Six patients had underlying structural-related problems (e.g., skeletal anomalies). No immunologic or hematologic problem was recorded. The mean ages of the primary and secondary groups were 2.4 and 5.3 years, respectively, but the difference was not statistically significant. The mean length of hospital stay was similar in both groups (22.8 days vs. 21.4 days). Immunologic studies were performed in 3 patients; the results were within the normal range. Most patients had prominent leukocytosis. Seven and 4 patients had right and left lung abscess, respectively. Staphylococcus aureus, Streptococcus pneumoniae, and antimycoplasma antibodies were detected in both groups. Two patients with primary lung abscess were administered antibiotics in the absence of other procedures, while 8 underwent interventional procedures, including 5 with secondary abscess. Conclusion: The most common symptoms were fever and cough. All patients in the primary group were younger than 3 years. Structural problems were dominant. Most patients required interventional procedures and antibiotics.

• Clinical and Experimental Reproductive Medicine
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• v.30 no.2
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• pp.179-184
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• 2003

The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome refers to a condition which presents as normal female secondary sex characteristics, normal external genitalia, congenital absence of the internal vagina, usually a rudimentary uterus in the form of bilateral noncanaliculated muscular buds, and normal tubes and ovaries with normal cytogenetic and endocrine evaluation, frequent association of renal, skeletal and other congenital anomalies. However, rarely, whole uterus or a segment of uterus may be present, but lacking a conduit to the introitus. If a partial endometial cavity is present in a segment of uterus, cyclic abdominal pain may be a complaint and furthermore endometiosis can be developed. Recently, we experienced a case of MRKH syndrome with the segments of uterus accompanying endometriosis in young woman. We present this case with a brief review of literatures.

• Clinical and Experimental Pediatrics
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• v.58 no.10
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• pp.392-397
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• 2015

Purpose: Alagille syndrome is a complex hereditary disorder that is associated with cardiac, hepatic, skeletal, ocular, and facial abnormalities. Mutations in the Notch signaling pathway, such as in JAG1 and NOTCH2, play a key role in embryonic development. A cardiac or hepatic presentation is a critical factor for determining the prognosis. Methods: We conducted a retrospective study of 41 patients with Alagille syndrome or a JAG1 mutation between 1983 and 2013. Results: The first presentations were jaundice, murmur, cyanosis, and small bowel obstruction at a median age of 1.0 months (range, 0-24 months). The JAG1 mutation was found in 27 of the 28 genetically-tested patients. Cardiovascular anomalies were identified in 36 patients, chronic cholestasis was identified in 34, and liver transplantation was performed in 9. There was no significant correlation between the severity of the liver and cardiac diseases. The most common cardiovascular anomaly was peripheral pulmonary stenosis (83.3%), with 13 patients having significant hemodynamic derangement and 12 undergoing surgical repair. A total bilirubin level of >15 mg/dL with a complex surgical procedure increased the surgical mortality (P=0.022). Eight patients died after a median period of 2.67 years (range, 0.33-15 years). The groups with fetal presentation and with combined severe liver and heart disease had the poorest survival (P<0.001). Conclusion: The group with combined severe liver and heart disease had the poorest survival, and a multidisciplinary approach is necessary to improve the outcome.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.26 no.3
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• pp.305-309
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• 2000

The basal cell nevus syndrome is a well recognized entity, the major symptoms of which are basal cell nevi, multiple jaw cysts, skeletal anomalies, and ectopic calcification. The syndrome follows a hereditary pattern, which is characterized by a highly penetrant, autosomal dominant gene with multiple and variable effects. The patient often has a characteristic face, with frontal and temporoparietal bossing, which results in an increased cranial circumference. The eyes may appear widely separated, and 40 percent of patients have true ocular hypertelorism. Jaw cysts are one of the most constant features of the syndrome and are present in at least 75 percent of the patients. The cysts are odontogenic keratocysts and frequently multiple. Radiographically, the cysts in patients with basal cell nevus syndrome do not differ significantly from isolated keratocysts. The cysts in patients with this syndrome are often associated with the crowns of unerupted teeth; on radiographs they may mimic dentigerous cysts. We report a case of multiple odontogenic keratocysts associated with basal cell nevus syndrome with the literature of review.