• International Journal of Advanced Culture Technology
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• v.8 no.1
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• pp.1-12
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• 2020

Pierre Robin syndrome is characterized by micrognathia, glossoptosis, and cleft palate. Infants with Pierre Robin syndrome causes feeding difficulty, upper airway obstruction, and other symptoms. This study aims to examine the effects of applying dysphagia treatment to infants with Pierre Robin syndrome. The study participant was an infant who was born four weeks premature and referred for dysphagia treatment approximately 100 days after birth. At the initial assessment, the infant showed oral sensory sensitivity, a high level of facial and masticatory muscle tension, and a low stability of the chin and cheeks with almost no normal "sucking-swallowing-breathing" pattern. We set the baseline period and intervention period using the AB design. During the baseline period, non-nutritive sucking training using a rubber nipple was conducted without implementing an oral stimulation intervention. During the intervention period, non-nutritive sucking training and an oral stimulation intervention were performed. After the intervention period, the infant's daily oral intake and oral intake per time significantly increased compared to that during the baseline period. We observed that the oral intake time of the infant decreased during the intervention period compared to that in the baseline period, which indicated an improvement in control over the chin, tongue, and lip movements, a change in muscular tension, and stabilization of the "sucking-swallowing-breathing" pattern. We provided dysphagia treatment before breastfeeding, it was positive effects such as normal development of the infant, transition from tube feeding to bottle feeding, and enhancement of overall oral motor function.

• Imaging Science in Dentistry
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• v.49 no.4
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• pp.323-329
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• 2019

Pierre Robin sequence (PRS) is characterized by the triad of micrognathia, glossoptosis, and airway obstruction. PRS does not have a single pathogenesis, but rather is associated with multiple syndromes. This report presents the case of a 35-year-old woman with PRS and scoliosis. Among the syndromes related to PRS, cerebro-costo-mandibular syndrome (CCMS), which is characterized by posterior rib gap defects and vertebral anomalies, was suspected in this patient. However, no posterior rib gap defect was detected on radiological examinations. Although over 80 cases of CCMS have been reported to date, few cases of PRS with scoliosis alone have been reported. Therefore, this report demonstrated the clinical, radiological, and cephalometric characteristics of an adult patient with PRS and scoliosis, but without rib anomalies.

• Clinical and Experimental Pediatrics
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• v.45 no.6
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• pp.804-808
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• 2002

We report a case of trisomy 22 in a liveborn male infant which was confirmed by fluorescence in situ hybridization(FISH), macrocultures and GTG-banding, and RHA-banding procedures of peripheral white blood cells. The infant showed lung hypoplasia, which is a unique presentation, with other clinical manifestations of previously reported cases of trisomy 22, such as intrauterine growth retardation, cleft palate, micrognathia, large atrial septal defect, limb anomalies, imperforate anus, and hypospadias. Our report gives weight to the previously reported observation that pulmonary hypoplasia may be associated in trisomy 22.

• Clinical and Experimental Pediatrics
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• v.57 no.6
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• pp.292-296
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• 2014

The deletion of the distal long arm of chromosome 1 is associated with a characteristic facial appearance and a pattern of associated malformations. Characteristic manifestations include a round face with prominent 'cupid's bow' and downturned corners of the mouth, thin vermilion borders of lips, a long upper lip with a smooth philtrum, a short and broad nose, epicanthal folds, apparently low-set ears, micrognathia, microcephaly, abnormal hands and feet, variable cardiac or genital anomalies, moderate to severe mental retardation, and growth retardation. Using fluorescent in situ hybridization (FISH) analysis to map precisely the deletion, we present a case of chromosome 1q44 deletion with craniofacial characteristics, multiple congenital anomalies, and growth and psychomotor retardation. In comparison with other reported cases of 1q43-44 deletion, the subject does not show hydrocephalus, seizure, syn- or polydactyly of hands, and a urogenital anomaly. However, an arachnoid cyst, pinpoint dimple on the midline of the forehead, a right-sided supernumerary nipple and auricular pit, polydactyly of the right foot, adducted thumb, and flexion restriction of the proximal interphalangeal joint with a simian line in both hands were observed additionally.

• Neonatal Medicine
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• v.17 no.1
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• pp.127-131
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• 2010

Supernumerary derivative (22) syndrome is a rare genomic syndrome. It is characterized by severe mental retardation, microcephaly, failure to thrive, preauricular tag or sinus, ear abnormalities, cleft and/or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects, and genital abnormalities in males. In 99% of the cases, one of the parents is a balanced carrier of a translocation between chromosome 11 and chromosome 22. To date, there have been about 100 case reports of supernumerary derivative (22) syndrome. In most of the cases, supernumerary derivative (22) syndrome was the result of 3:1 meiotic segregation in the maternal 11;22 translocation carrier. We now report a case of 47,XX, + der(22)t(11;22)(q23;q11.2) resulting from 3:1 meiotic segregation of the paternal translocation carrier.

• Sleep Medicine and Psychophysiology
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• v.5 no.2
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• pp.210-215
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• 1998

OSA(Obstructive Sleep Apnea) is a condition with repeated obstruction of the upper airway while sleeping. This obstruction of the upper airway may result if sleep-induced physiologic change in muscle activity is superimposed on various structural defects of the upper airway. Macroglossia, micrognathia, retrognathia, and decreased airway lumen have all been implicated in OSA. There are a variety of surgical and nonsurgical treatment modalities currently available for OSA. Recently the uvulopalatopharyngoplasty has achieved widespread use, but success rates vary and long-term effects are still unknown. Current nonsurgical treatment methods can be cumbersome and uncomfortable with variable responses. For this case. we diagnosed as OSA by using polysomnographic analysis and cephalometric analysis, and delivered intraoral removable appliance which is more conservative, reversible and easy to use for patient. And we got results that Apnea Index(AI) decreased from 14.4 to 3.1, Total Respiratory Disturbance Index(Total RDI) decreased from 18.1 to 7.0 and removal of chronic headache in daytime.

• Journal of Genetic Medicine
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• v.15 no.1
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• pp.34-37
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• 2018

A 1q21.1 microdeletion is an extremely rare chromosomal abnormality that results in phenotypic diversity and incomplete penetrance. Patients with a 1q21.1 microdeletion exhibit neurological-psychiatric problems, microcephaly, epilepsy, facial dysmorphism, cataract, and thrombocytopenia absent radius syndrome. We reported a neonate with confirmed intrauterine growth restriction (IUGR), micrognathia, glossoptosis, upper airway obstruction, facial dysmorphism, and eye abnormality at birth as well as developmental delay at the age of 1 year. These clinical manifestations, except for the IUGR and upper airway obstruction, in the neonate indicated a 1q21.1 microdeletion. Here, we report a rare case of a 1q21.1 microdeletion obtained via paternal inheritance in a newborn with upper airway obstruction caused by glossoptosis and tracheal stenosis.

• Journal of Genetic Medicine
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• v.16 no.1
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• pp.15-18
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• 2019

SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome: (S) short stature, (H) hyperextensibility of joints and/or inguinal hernia, (O) ocular depression, (R) Rieger anomaly, and (T) teething delay. Other key aspects of this syndrome not found in the mnemonic include lipodystrophy, triangular face with dimpled chin (progeroid facies, commonly referred to as facial gestalt), hearing loss, vision loss, insulin resistance, and intrauterine growth restriction (IUGR). 3q duplication syndrome is rare syndrome that occurs due to a gain of function mutation found at 3q25.31-33 that presents with a wide array of manifestations including internal organ defects, genitourinary malformations, hand and foot deformities, and mental disability. We present a case of a 2 year and 3 month old male with SHORT syndrome and concurrent 3q duplication syndrome. The patient presented at birth with many of the common manifestations of SHORT syndrome such as bossing of frontal bone of skull, triangular shaped face, lipodystrophy, micrognathia, sunken eyes, and thin, wrinkled skin (progeroid appearance). Additionally, he presented with findings associated with 3q duplication syndrome such as cleft palate and cryptorchidism. Although there is no specific treatment for these conditions, pediatricians should focus on referring patients to various specialists in order to treat each individual manifestation.

• The korean journal of orthodontics
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• v.52 no.6
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• pp.451-460
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• 2022

Moebius syndrome (MBS) is a congenital neurologic disorder that causes cranio-facial abnormalities. It involves paralysis of the VI and VII cranial nerves and causes bilateral or unilateral facial paralysis, eye movement disorder, and deformation of the upper and lower limbs. The orofacial dysfunctions include microstomia, micrognathia, hypotonic mimetic and lip muscles, dental enamel hypoplasia, tongue deformity, open bite or deep overbite, maxillary hypoplasia, high arched palate, mandibular hyperplasia or features indicating mandibular hypoplasia. This case report presents a 7-year-old male patient who was diagnosed with MBS at the age 2 years. The patient displayed typical clinical symptoms and was diagnosed with Class II malocclusion with a large overjet/overbite, tongue deformity and motion limitation, and lip closure incompetency. Treatment was initiated using a removable appliance for left scissor bite correction. After permanent tooth eruption, fixed appliance treatment was performed for correction of the arch width discrepancy and deep overbite. A self-ligation system and wide-width arch form wire were used during the treatment to expand the arch width. After 30 months of phase II treatment, the alignment of the dental arch and stable molar occlusion was achieved. Function and occlusion remained stable with a Class I canine and molar relationship, and a normal overjet/overbite was maintained after 9.4 years of retainer use. In MBS patients, it is important to achieve an accurate early diagnosis, and implement a multidisciplinary treatment approach and long-term retention and follow-up.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.18 no.3
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• pp.366-370
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• 1996

Bilateral cleft lip reconstruction can be performed in one-or two-stages. The choice depends on the surgeon's proficiency and experience. However the type and severity of the cleft must be considered. Complete or incomplete symmetric, bilateral clefts in which the premaxilla is within the alveolar arch or slightly protruded can be successfully treated with simultaneous lip reconstruction on both sides. There are some advantages that one-stage lip reconstruction facilitates creation of a symmetric and balanced lip, retraction of protruding premaxilla and the parent's psychologic satisfaction. However, there are some disadvantages such as micrognathia of the upper jaw by severe scar formation and poor adaptation of flap margins by severe tension. The surgeon must be able to judge and exploit the advantages offered by one-stage approach. We present the case report of one-stage reconstruction of primary bilateral cleft lip with literature reviews.