• Proceedings of The Korean Cleft Lip And Palate Association
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• 2002.05a
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• pp.42-42
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• 2002

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.5 no.2
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• pp.92-95
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• 2009

In 1923, Pierre Robin, a French stomatologist, first reported the association of micrognathia with glossoptosis. As more than 80% of all Pierre Robin cases accompanied with other syndrome such as Stickler syndrome, velocardiofacial syndrome, fetal alcohol syndrome, Treacher Collins syndrome, etc, it is called Pierre Robin sequence(PRS). PRS is described in the literature as a triad of anomalies characterized by micrognathia, glossoptosis and cleft palate. Clinically, the triad consists of airway obstruction and feeding difficulty, which are more frequent and severe in the neonatal period. In this case, a 14-month old boy with PRS was referred to the department of pediatric dentistry, Yonsei university dental hospital, who resolved airway obstruction by lateral positioning and feeding problem by percutaneous endocutaneous gastrotomy insertion. PRS is a developmental disorder as well as an anatomic obstructive disorder, therefore it should be dealt with by a multidisciplinary team.

• Journal of Genetic Medicine
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• v.18 no.2
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• pp.110-116
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• 2021

Microdeletions of chromosome 22q11.2 are one of the most common microdeletions occurring in humans, and is known to be associated with a wide range of highly variable features. These deletions occur within a cluster of low copy repeats (LCRs) in 22q11.2, referred to as LCR22 A-H. DiGeorge (DGS)/velocardiofacial syndrome is the most prevalent form of a 22q11.2 deletions, caused by mainly proximal deletions between LCR22 A and D. As deletions of distal portion to the DGS deleted regions has been extensively studied, the recurrent distal 22q11.2 microdeletions distinct from DGS has been suggested as several clinical entities according to the various in size and position of the deletions on LCRs. We report a case of long-term follow-up of a female diagnosed with a 22q11.2 distal deletion syndrome, identified a deletion of 1.9 Mb at 22q11.21q11.23 (chr22: 21,798,906-23,653,963) using single nucleotide polymorphism array. This region was categorized as distal deletion type of 22q11.2, involving LCR22 D-F. She was born as a preterm, low birth weight to healthy non-consanguineous Korean parents. She showed developmental delay, growth retardation, dysmorphic facial features, and mild skeletal deformities. The patient underwent a growth hormone administration due to growth impairment without catch-up growth. While a height gain was noted, she had become overweight and was subsequently diagnosed with pre-diabetes. Our case could help broaden the genetic and clinical spectrum of 22q11.2 distal deletions.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.14 no.1
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• pp.36-40
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• 2018

CATCH22 syndrome or DiGeorge syndrome is a medical acronym of cardiac defects, abnormal facial appearances, thymic hypoplasia, cleft palate, and hypocalcemia. Patients with CATCH22 syndrome are susceptible to infection due to an absent or hypoplastic thymus and often have difficulties in maintaining good oral hygiene, which may require dental treatment. We present a case of dental treatment for the uncooperative child with CATCH22 syndrome under general anesthesia. A 4-year-old, 14.8 kg boy with CATCH22 syndrome visited Seoul National University Dental Hospital for dental check up. The patient had multiple caries requiring dental treatment. He experienced the corrective heart surgery due to Tetralogy of Fallot a few years ago. General anesthesia was planned because his heart rate and vital sign had shown unstable during the previous conscious sedation procedure. Dental restorative treatments were successfully performed and no complications were observed during and after the procedure. Safe and effective dental management of the patients with CATCH22 syndrome could be performed with the help of general anesthesia and careful monitoring.