• Journal of the korean academy of Pediatric Dentistry
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• v.37 no.4
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• pp.545-550
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• 2010

Freeman-Sheldon Syndrome (FSS, also known as "Whistling Face Syndrome") is a rare genetic condition which characteristically includes a small "whistling" mouth, a flat mask-like face, club feet, joint contractures usually involving the fingers and hands, and under-development of the cartilage of the nose. Intelligence is usually normal. Most of the features of this syndrome are due to muscle weakness. The patient, 11 years old boy was consulted from pediatrics to pediatric dentistry due to dental management. After clinical & radiographic examinations, severe multiple problems were found. Dental problems were microsomia(whistling mouth) & micrognathia, perioral muscle contracture, restricted mouth opening, poor oral hygiene & care, generalized dental caries, high palatal vault, severe malocclusion & crowding. And Orthopedic problems, ophthalmic & respiratory, anesthetic problems were found. Then He also had psychiatric problem, hospital(dental) phobia due to previous medical history(frequent hospitalization). And he had genital problem, cryptochidism, too. Due to these intricate problems, he suffered with feeding, swallowing difficulties and showed growth retardation. For enhancing patient's oral health, pediatric dentist, orthodontist, oral surgeon, pediatrician, psychiatrist, orthopedist, they all agree with early, cautious intervention and treatment. So, he has been treated by multidisciplinary care, now he is recovering general health maintenance.

• Journal of Genetic Medicine
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• v.7 no.2
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• pp.119-124
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• 2010

More than 7,000 rare Mendelian diseases have been reported, but less than half of all rare monogenic disorders has been discovered. In addition, the majority of mutations that are known to cause Mendelian disorders are located in protein-coding regions. Therefore, exome sequencing is an efficient strategy to selectively sequence the coding regions of the human genome to identify novel genes associated with rare genetic disorders. The "exome" represents all of the exons in the human genome, constituting about 1.5% of the human genome. Exome sequencing is carried out by targeted capture and intense parallel sequencing. After the first report of successful exome sequencing for the identification of causal genes and mutations in Freeman Sheldon syndrome, exome sequencing has become a standard approach to identify genes in rare Mendelian disorders. Exome sequencing is also used to search the causal genes and variants in complex diseases. The successful use of exome sequencing in Mendelian disorders and complex diseases will facilitate the development of personalized genomic medicine.