• Journal of Genetic Medicine
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• v.6 no.1
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• pp.87-90
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• 2009

Cardiofaciocutaneous (CFC) syndrome is characterized by dysmorphic features, cardiac anomalies, and cutaneous abnormalities. CFC syndrome belongs to the class of Noonan-related diseases. CFC syndrome can be clinically differentiated from other Noonan-related diseases by the distinct craniofacial features of sparse hair, a hypoplastic supraorbital ridge, exophthalmos and nystagmus, and skin manifestations such as ichthyosis and hyperkeratosis. However, phenotypes can overlap among Noonan-related syndromes, including CFC syndrome. Recently, several genes in the RAS-MAPK pathway have been identified as disease-causing genes for Noonan-related diseases. Here, we report on a Korean girl diagnosed with CFC syndrome caused by a V-raf murine sarcoma viral oncogene homolog B1 (BRAF) gene mutation, and we discuss the phenotype-genotype heterogeneities in Noonan syndrome and Noonan-related diseases.

• Journal of the korean academy of Pediatric Dentistry
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• v.45 no.1
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• pp.115-122
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• 2018

Noonan syndrome is characterized by distinctive facial features, short stature, and congenital heart disease. It is a congenital genetic disorder with a prevalence of between 1/1,000 and 1/2,500 in both genders. An 11-year-old boy with Noonan syndrome visited the hospital with an ectopically positioned tooth. A pulmonary stenosis was diagnosed and his growth and development were delayed. In many cases of this diseases there is obvious hemostasis, which he was not experiencing. His facial appearance showed characteristic features of Noonan syndrome. The patient showed a dental class II relationship, labioversion of the upper anterior teeth, and a shallow overbite. Radiographic examination revealed that the upper right canine was ectopically positioned, which led to root resorption of the upper right lateral incisor. A lateral cephalometric radiograph revealed a craniofacial pattern that was within normal limits. Surgical opening and button attachment on the impacted upper right canine were performed and traction was applied on the impacted tooth using a removable appliance. This patient was mildly affected by Noonan syndrome and showed some dental problems. However, few studies have reported the oral characteristics of Noonan syndrome despite its high incidence. Thus, this case report describes the oral features and management of Noonan syndrome.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.13 no.1
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• pp.37-42
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• 2017

Noonan syndrome is a relatively common genetic disorder which is autosomal dominant. Prevalence of Noonan syndrome is varying from 0.04% to 0.1%. It is characterized by distinctive facial features, chest deformity, short stature and congenital heart disease. Oral findings in patient with Noonan syndrome include high arched palate, dental malocclusion, articulation difficulties, and micrognathia. The purpose of this case report is to describe dental treatment of a children with Noonan syndrome. 5 year old boy with Noonan syndrome visited to the Seoul National University Dental Hospital for dental treatment. Due to need for close monitoring, concern about seizure and poor cooperation, we planned to perform the dental treatment under general anesthesia. Under general anesthesia, caries treatment was successfully performed and there was no postoperative complications related to general anesthesia. High arched palate was observed which is characteristic in Noonan syndrome.

• 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.

• Neonatal Medicine
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• v.18 no.2
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• pp.374-378
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• 2011

Noonan syndrome is an autosomal dominant disorder characterized by typical facial features, congenital heart disease, and short stature. Diagnosis is difficult only with clinical symptoms and it is recently confirmed with gene study. The genotype-phenotype correlations have been reported. We report a newborn with KRAS gene mutation. This is the second report of case with KRAS gene mutation in Korea. So we hope this case will be a help to diagnosis and treatment of Noonan syndrome from birth.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.23 no.1
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• pp.31-35
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• 2012

Noonan syndrome is characterized by short stature, typical facial dysmorphology, and congenital heart defects. The main facial features of Noonan syndrome are hypertelorism with down-slanting palpebral fissures, ptosis, and low-set posteriorly-rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency, and lymphatic dysplasias. The patient is a 10-year-old boy. He had experienced repeated febrile convulsions. He had typical facial features, a short stature, chest deformity, cryptorchidism, vesicoureteral reflux, and mental retardation. His language and motor development were delayed. When he went to school, it was difficult for him to pay attention, follow directions, and organize tasks. He also displayed behavior such as squirming, leaving his seat in class, and running around inappropriately. Clinical observation is important for the diagnosis, so we report a patient who was diagnosed with Noonan syndrome, mental retardation, and attention-deficit hyperactivity disorder.