• The Journal of Korea Assosiation for Disability and Oral Health
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• v.3 no.1
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• pp.17-21
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• 2007

Alagille syndrome is an autosomal dominant genetic disorder and occurs in approximately 1 in 100,000 live births. Diagnostic criteria was established by Alagille. It is mainly caused by a mutation in the Jagged1 gene. Major clinical features of this syndrome are paucity of intrahepatic bile duct with cholestasis, characteristic facies, cardiac murmur, defects of vertebrae, and embryotoxon. And minor clinical features are mental retardation, renal involvement, growth retardation, other skeletal abnormalities, a high-pitched voice. The surviving prognosis of Alagille syndrome patients depends on the severity of cardiovescular malformation in the early ages of infant. However, with the increasing years, it depends on the severity of the liver disease. Cholestasis causes congenital jaundice, malnutrition and growth retardation. Also, the increase of serum cholesterol level cause xanthoma and pruritus. Even though the severity of these problems are reduce with age, there is cases where there is no way but liver transplantation. For oral features of Alagille syndrome patients, green discoloration of entire dentition, induced by bilirubin infiltration into dentinal tubules, is especially. Also, xanthoma on gingiva and partial hypodontia have been reported. This report is on the oral features of an Alagille syndrome patient who visited to Kyung-Pook University Hospital.

• Journal of the korean academy of Pediatric Dentistry
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• v.41 no.1
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• pp.34-39
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• 2014

Nevoid basal cell carcinoma syndrome(NBCCS) is a autosomal dominant disorder, and its major manifestations are multiple basal cell carcinoma, keratocystic odontogenic tumor, rib anomalies, palmer and plantar pits, calcification of the falx cerebri. Keratocystic odontogenic tumor(KCOT) is defined as intraosseous tumor of odontogenic origin with a characteristic lining of parakeratinized stratified squamous epithelium and potential aggressive behavior. We report a case of a 3-year-old patient with nevoid basal cell carcinoma syndrome who initially presented with unilocular keratocystic odontogenic tumor in maxillary canine region. Keratocystic odontogenic tumor was treated by enucleation, and periodic follow-up check will be required for early diagnosis of additional diseases related with this syndrome.

• Journal of the korean academy of Pediatric Dentistry
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• v.35 no.3
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• pp.556-561
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• 2008

Neurofibromatosis is an autosomal dominant disorder caused by a mutation of a tumor supressor gene on the long arm of chromosome 17. There are two types of neurofibromatosis, and development of neurofibroma is one of clinical diagnostic criteria for neurofibromatosis. The clinical signs of neurofibromatosis include as skin lesions, bone deformities, and tumors involving central nervous system. About 25% of neurofibromatosis involves oral neurofibroma. Radiographically, oral neurofibroma is well-defined unilocular radiolucency, which involves mandibular canal, mandibular foramen and mental foramen. When a lesion is small and approachable, complete resection, including 1cm of marginal connective tissue, is feasible. However, there are studies reporting that the recurrence rate after surgical resection is high and frequent recurrence may even increase the risk of malignant transformation. This case reports a patient with neurofibromatosis type I, accompanying oral neurofibroma, who shows a favorable result after surgical resection of the oral lesion.

• Clinical and Experimental Pediatrics
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• v.46 no.1
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• pp.86-90
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• 2003

Alagille syndrome is a autosomal dominant disorder characterized by intrahepatic bile duct paucity and resultant chronic cholestasis in combination with cardiac(mainly peripheral pulmonary stenosis), skeletal, ocular, and facial abnormalities. In addition to the pulmonary stenosis, in large series, anecdotal reports of vascular lesions have concerned the renal artery, aorta, hepatic artery, carotid artery, celiac artery or subclavian artery. Theses diffuse vascular abnormalities, which appear to be a feature of Alagille syndrome, suggest Notch signaling pathway defects affect angiogenesis. The associations of Alagille syndrome with moyamoya disease, the chronic cerebrovascular occlusive disease, were reported and suggested as additional evidence of vasculopathy of Alagille syndrome. We report another 25 month-old Alagille syndrome girl who presented with acute left hemiparesis and was diagnosed with moyamoya disease through the cerebral angiographic study.

• Clinical and Experimental Pediatrics
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• v.57 no.9
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• pp.410-415
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• 2014

Purpose: Neurofibromatosis 1 (NF1) is an autosomal dominant condition caused by an NF1 gene mutation. NF1 is also a multisystem disorder that primarily affects the skin and nervous system. The goal of this study was to delineate the phenotypic characterization and assess the NF1 mutational spectrum in patients with NF1. Methods: A total of 42 patients, 14 females and 28 males, were enrolled in this study. Clinical manifestations and results of the genetic study were retrospectively reviewed. Results: Age of the patients at the time of NF1 diagnosis was $15.8{\pm}14.6$ years (range, 1-62 years). Twelve patients (28.6%) had a family history of NF1. Among the 42 patients, $Caf\acute{e}$-au-lait spots were shown in 42 (100%), neurofibroma in 31 (73.8%), freckling in 22 (52.4%), and Lisch nodules in seven (16.7%). The most common abnormal finding in the brain was hamartoma (20%). Mental retardation was observed in five patients (11.9%), seizures in one patient (2.4%), and plexiform neurofibromas (PNFs) in four patients (9.5%). One patient with PNFs died due to a malignant peripheral nerve sheath tumor in the chest cavity. Genetic analysis of seven patients identified six single base substitutions (three missense and three nonsense) and one small deletion. Among these mutations, five (71.4%) were novel (two missense mutations: p.Leu1773Pro, p.His1170Leu; two nonsense mutations: $p.Arg2517^*$, $p.Cys2371^*$; one small deletion: $p.Leu1944Phefs^*6$). Conclusion: The clinical characteristics of 42 Korean patients with NF1 were extremely variable and the mutations of the NF1 gene were genetically heterogeneous with a high mutation-detection rate.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.2
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• pp.168-173
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• 2014

Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal dominant disorder caused by a mutation of the type III collagen (COL3A1). The manifestation of vEDS can be seen in skin, joints, blood vessels, and internal organs. The diagnosis of vEDS often is missed until the patient presents with a life-threatening complication such as spontaneous arterial rupture or bowel perforation. We report a 16-year-old male who had recurrent right thigh hematoma after simple exercise and minor trauma, respectively. He had a history of surgery due to spontaneous colon perforation at his age of 11 years. Gene test of COL3A1 revealed a novel mutation c.2931+dupT.

• Journal of Genetic Medicine
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• v.12 no.1
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• pp.44-48
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• 2015

Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the classic triad of congenital anomalies of the anus, thumbs, and ears, with variable expressivity. Additionally, renal malformations, cardiac anomalies, and endocrine and eye abnormalities can accompany TBS, although less frequently. TBS is inherited in an autosomal dominant fashion; however, about 50% of patients have a family history of TBS and the remaining 50% have de novo mutations. SALL1, located on chromosome 16q12.1, is the only causative gene of TBS. SALL1 acts as a transcription factor and may play an important role in inducing the anomalies during embryogenesis. Clinical features of TBS overlap with those of other multiple anomaly syndromes, such as VACTERL syndrome, Baller-Gerold syndrome, Goldenhar syndrome, cat eye syndrome, and Holt-Oram syndrome. Consequently, there are some difficulties in differential diagnosis based on clinical manifestations. Herein, we report a Korean family with two generations of TBS that was diagnosed based on physical examination findings and medical history. Although the same mutation in SALL1 was identified in both the mother and the son, they displayed different clinical manifestations, suggesting a phenotypic diversity of TBS.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.7 no.2
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• pp.123-126
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• 2011

Noonan syndrome (NS) is a developmental disorder characterized by dysmorphic facial features in association with short stature, mental retardation and congenital heart disease. NS may be sporadic or inherited as an autosomal dominant or recessive trait. The children with NS usually have ocular hypertelorism, downslanting palpebral fissures, low-set ears and a webbed neck, chest deformity. In addition, oral features include micrognathia, high arched palate, dental malocclusion, dental anomalies and rarely, cleft palate. The phenotype of NS bears similarities to that of Turner syndrome. However, NS occurs in both males and females with a normal sex chromosome 46, XX and 46, XY constitution. This case presents the intermittent treatment of an 8-year-old girl who was referred from a local clinic for the extraction of supernumerary teeth and treatment of dental caries. The focus of this case report is the oral aspects on NS and particularities of the dental treatment in subjects affected by this genetic disease.

• Tuberculosis and Respiratory Diseases
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• v.64 no.5
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• pp.369-373
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• 2008

Tuberous sclerosis (TS) is an autosomal dominant disorder that is characterized by cutaneous lesions, seizures, mental retardation and hamartomas in various organs including the skin, kidney and brain. Pulmonary involvement is extremely rare, and occurs in approximately 0.1 to 1% of TS cases. Recent reports have indicated multiple micronodular pneumocyte hyperplasia (MMPH) as another rare form of pulmonary involvement of tuberous sclerosis. We report a case of a 35 year-old-male patient who had no pulmonary symptoms but showed multinodular pulmonary shadows on his chest CT scan. The patient was finally diagnosed with TS with MMPH of the lung. MMPH does not appear to have any malignant potential but the clinical significance of MMPH in TS patients is unknown.

• Journal of the korean academy of Pediatric Dentistry
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• v.25 no.3
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• pp.555-561
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• 1998

Hypophosphatasia is a rare metabolic disorder which manifests characteristics such as abnormal mineralization of bone and dental tissues, diminished serum and tissue alkaline phosphatase, and increased urinary secretion of PEA. It inherited as an autosomal recessive or dominant trait and occurs in all races. In general, hypophosphatasia can be classified in 4 subtypes which are the perinatal, infantile, childhood, adult type depending upon the age at presentation and severity. In young children with Hypophosphatasia the long bones show irregular defects, and the skull showes poor calcification. In older children with premature closure of the skull sutures there may be multiple lucent area called gyral or convolutional markings, described as resembling beaten copper, presumably resulting from increased intracranial pressure. Examination of the jaws reveals a generalized lucency of the maxilla and mandible. the cortical bone and lamina dura are thin, and the alveolar bone may be deficient. Clinical features of Hypophosphatasia include premature loss of deciduous teeth, especially incisors, hypoplasia or aplasia of root cementum, enamel hypoplasia, irregular calcification of dentin, large pulp chamber, and resorption of marginal alveolar bone and roots. Our report involves a patient with a chief complaint of early loss of both Mx. and Mn. deciduous incisors. After conducting a through clinical and radiographic examination this patient was referred to pediatrics under the suspicion of hypophosphatasia, the diagnosis proved to be correct and successful results were accomplished through a denture made to improve esthetics and function.