• Journal of Genetic Medicine
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• v.8 no.2
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• pp.125-129
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• 2011

Stickler syndrome is a very rare connective tissue disorder. The authors of the present study describe an 11-month-old girl with high myopia, retinal abnormalities, flat nose, cleft palate, retrognathia, micrognathia, short stature and arthrogryposis. Radiological evaluation also showed irregularity of the epiphysis of the femur and tibia and spondyloepiphyseal dysplasia. Genetic analysis using a peripheral blood sample revealed a novel variant c.787G>A (p.Gly246Asp) mutation of the COL2A1 gene. This is the first Korean case with Stickler syndrome confirmed by genetic testing.

• Archives of Plastic Surgery
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• v.38 no.4
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• pp.547-551
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• 2011

Purpose: Pierre Robin sequence is a congenital malformation in which micrognathia causes glossoptosis and airway obstruction. If conservative treatment fails, surgical procedures such as tongue-lip adhesion can be performed. However, this procedure remains a subject of debate, with favorable results being countered by reports of complications. To overcome the above limitations, we revised the traditional method of tongue-lip adhesion using an alveolar protector. Methods: Between 1992 and 2011, a total of eight patients were identified with Pierre Robin sequence and were treated with tongue-lip adhesion. Two of these eight tongue-lip adhesion procedures were performed with an alveolar protector. The operative technique for tongue-lip adhesion was similar to that described in other published reports. The alveolar protector was inserted between the ventral surface of the tip of the tongue and the lower labial sulcus. Results: Tongue-lip adhesion failed in two patients because of wound dehiscence. The primary surgical success rate was 66.7%. In the two tongue-lip adhesion procedures performed with the alveolar protector, we observed no postoperative complications. Conclusion: Resistance to traction of the tongue can be encountered with nonunionized symphysis menti, causing loosening of the traction suture through the symphysis menti. This can lead to backward positioning of tongue, resulting in dehiscence of tongue lip adhesion. The alveolar protector is a good adjunct to tongue-lip adhesion because this method avoids postoperative loosening of the traction suture and wound dehiscence. It is a simple and effective auxiliary method that yields functional improvement.

• Journal of Yeungnam Medical Science
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• v.22 no.2
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• pp.241-246
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• 2005

Constitutional trisomy 8 is a relatively rare aneuploidy; most identified cases are mosaic with a normal cell line. The phenotype is highly variable from apparently normal to severe disability. The proportion of abnormal cells is dramatically different between tissues and the severity of the phenotype is not directly related to the level of mosaicism. Therefore, it is very difficult to provide a definitive prognosis. We report here a case of constitutional trisomy 8 mosaicism with agenesis of the corpus callosum, congenital heart disease and micrognathia. The trisomy 8 cell line was not detected by prenatal cytogenetic study. This is the fourth reported case of constitutional trisomy 8 mosaicism in Korea.

• The korean journal of orthodontics
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• v.49 no.6
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• pp.413-426
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• 2019

This study was performed to describe the longitudinal management of recurrent temporomandibular joint (TMJ) ankylosis from infancy to adulthood in perspective of surgical and orthodontic treatment. A 2-year-old girl was referred with chief complaints of restricted mouth opening and micrognathia due to bilateral TMJ ankylosis. For stage I treatment during early childhood (6 years old), high condylectomy and interpositional arthroplasty were performed. However, TMJ ankylosis recurred and symptoms of obstructive sleep apnea (OSA) developed. For stage II treatment during early adolescence (12 years old), gap arthroplasty, coronoidectomy, bilateral mandibular distraction osteogenesis, and orthodontic treatment with extraction of the four first premolars were performed. However, TMJ ankylosis recurred. Because the OSA symptoms reappeared, she began to use a continuous positive airway pressure device. For stage III treatment after completion of growth (20 years old), low condylectomy, coronoidectomy, reconstruction of the bilateral TMJs with artificial prostheses along with counterclockwise rotational advancement of the mandible, genioglossus advancement, and orthodontic treatment were performed. After stage III treatment, the amount of mouth opening exhibited a significant increase. Mandibular advancement and ramus lengthening resulted in significant improvement in the facial profile, Class I relationships, and normal overbite/overjet. The OSA symptoms were also relieved. These outcomes were stable at the one-year follow-up visit. Since the treatment modalities for TMJ ankylosis differ according to the duration of ankylosis, patient age, and degree of deformity, the treatment flowchart suggested in this report could be used as an effective guideline for determining the appropriate timing and methods for the treatment of TMJ ankylosis.

• Journal of Genetic Medicine
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• v.18 no.1
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• pp.48-54
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• 2021

Genetic imbalances are a major cause of congenital and developmental abnormalities. We report the first case of a 3p26 microdeletion and 5q35.2q35.3 microduplication in a newborn with multiple congenital anomalies evaluated using chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH). The patient was born at 30 weeks and 2 days of gestation with a body weight of 890 g. He had symmetric intrauterine growth restriction, microcephaly, facial dysmorphism (hypertelorism, blepharophimosis, mild low-set ears, high-arched palate, and micrognathia), and right thumb polydactyly. Echocardiography revealed an atrial septal defect and patent ductus arteriosus. Furthermore, CMA revealed a concurrent microdeletion in 3p26 and a microduplication in 5q35.2q35.3. FISH analysis showed that these genetic changes resulted from a translocation mutation between chromosomes 3 and 5. The patient's mother had mild intellectual disability, short stature, and facial dysmorphism, while his father had a normal phenotype. However, parental FISH analysis revealed that the asymptomatic father carried a balanced translocation of chromosomes 3p26 and 5q35. CMA and FISH tests are useful for diagnosing neonates with multiple congenital abnormalities. Further parental genetic investigation and proper genetic counseling are necessary in cases of chromosomal abnormalities inherited from parental balanced translocations.

• Imaging Science in Dentistry
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• v.54 no.1
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• pp.13-24
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• 2024

Purpose: Pycnodysostosis (PYCD), an autosomal recessive syndrome, is characterized by an imbalance in bone remodeling that produces various clinical and radiographic craniofacial manifestations. This review represents a systematic examination of these manifestations, as well as oral features associated with PYCD. Materials and Methods: A systematic review was conducted across 8 databases from February to March 2023. The search strategy focused on studies reporting cases of PYCD that examined the clinical and radiographic craniofacial and oral characteristics associated with this syndrome. Results: The review included 84 studies, encompassing a total of 179 cases of PYCD. More than half of the patients were female (55.3%), and the mean age was 14.7 years. Parental consanguinity was reported in 51.4% of the cases. The most common craniofacial clinical manifestation was a prominent nose, observed in 57.5% of cases. Radiographically, the most frequently reported craniofacial characteristics included the presence of an obtuse mandibular angle (84.3%) and frontal cranial bosses(82.1%). Clinical and radiographic examinations revealed oral alterations, with micrognathia present in 62.6% of patients and malocclusion in 59.2%. Among dental anomalies, tooth agenesis was the most commonly reported, affecting 15.6% of patients. Conclusion: Understanding the clinical and radiographic craniofacial features of PYCD is crucial for dental professionals. This knowledge enables these clinicians to devise effective treatment plans and improve patient quality of life.

• Clinical and Experimental Pediatrics
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• v.45 no.3
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• pp.383-389
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• 2002

We experienced a case of partial DiGeorge syndrome in a $35^{＋5}$ week premature female infant presented with micrognathia, fish-shaped mouth, beaked nose, nasal regurgitation, obstructive sleep apnea, velopharyngeal insufficiency and late onset hypocalcemic seizures. The chromosome 22q11 microdeletion was found by the FISH method. The lab findings showed serum calcium level of 4.4 mg/dL, ionized calcium level of 0.49 mg/dL, phosphorous level of 7.5 mg/dL, magnesium level of 1.3 mg/dL and PTH-RIA level of <1 pq/mL. Initial treatment was done with 10% calcium gluconate infusion and magnesium sulfate followed by oral calcium gluconate and low phosphorousformula milk feeding. The serum calcium level was normalized in 6 days. Nasal regurgitation, desaturation with obstructive sleep apnea continued. T-cell functions & numbers(CD 3, CD 4, CD 8)were decreased but Ig G/A/M levels were normal. No visible signs of thymus shadow were seen in either chest X-ray & chest MRI. Electrocardiography and echocardiography showed normal heart. Kidney ultrasonographby showed right side mild hydronephrosis. Neurosonography was normal but EEG showed electrical partial seizure. Hearing assessment by BERA showed mild to moderate hearing impairment. Velopharyngoplasty is scheduled for further treatment. A brief review of literature was made.

• Clinical and Experimental Pediatrics
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• v.52 no.2
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• pp.242-246
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• 2009

The clinical features of ring chromosome 13 include mental and growth retardation, CNS anomalies, facial dysmorphism, cardiac defects, genital malformations, limb anomalies, skeletal deformities and anal malformations. Although many cases of ring chromosome 13 have been reported worldwide, only 6 cases have been reported in Korea, and the latter cases were not mosaic but pure ring chromosome 13. Here we report a case with mosaic ring chromosome 13. The baby boy was born at 37 weeks of gestation by induced vaginal delivery due to intrauterine growth restriction (IUGR). He was the second baby of a 28-year-old hepatitis B carrier mother and a 32-year-old father. There was no family history of chromosomal anomalies. The baby was a symmetric IUGR with a birth weight of 1,860 g, length of 44.8 cm, and head circumference of 29.4 cm. The physical examination revealed microcephaly, trigonocephaly, flat occiput, large ears, short neck and dysmorphic facial features, including microophthalmia, hypertelorism, antimongoloid slanting palpebral fissures, a flat nasal bridge, and micrognathia. The karyotype of this patient performed by peripheral blood lymphocytes was 46,XY,r(13)(p13q34)/45,XY,-13/46,XY,dic r(13;13)(p13q34;p13q34). The baby showed failure to thrive, hypotonia, and developmental delay. We report the first case of mosaic ring chromosome 13 in a male baby in Korea and compare this case with other Korean cases of non-mosaic ring chromosome 13.

• Journal of the korean academy of Pediatric Dentistry
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• v.25 no.4
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• pp.837-842
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• 1998

Rett syndrome is a progressive neurological disorder that occurs exclusively in females. The syndrome is characterized by regression of language, motor development, and stereotypic hand movement. Autistic behavior, breathing irregularities, gait dyspraxia, scoliosis, and seizure are also accompanied. The cause of Rett syndrome is unknown, however, it is believed that the X-chromosome might playa significant role in the development of the syndrome. Patients with this syndrome have unusual oral and/or digital habits such as abnormal chewing pattern, bruxism, hypersalivation, micrognathia, high vaulted palate, tongue protrusion with lower posture of tongue, hand biting, digit-hand sucking. Dentists who are aware of distinct manifestations of Rett syndrome will be able to aid in early diagnosis and treatment of the syndrome. Prior to dental treatment for a patient with the Rett syndrome under sedation or general anesthesia, one should assess the degree of hypersalivation, apnea, severity of autism, expected life span. Early recognition of the syndrome and also dental treatment with established strict preventive guidelines for patients with the Rett syndrome may obviate the necessity of sedation or general anesthesia. Two cases with the Rett syndome were reported. Both patients had most of the above mentioned typical manifestations of the syndrome. Dental treatment for the case 1(8-year-old) including caries control, stainless steel crown, sealant application was performed under general anesthesia. The case 2 could not be undergone the dental treatment due to poor general conditions.

• Journal of the korean academy of Pediatric Dentistry
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• v.28 no.1
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• pp.166-170
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• 2001

Rubinstein-Tabyi syndrome(RTS) is a congenital multisystem dysmorphic syndrome with many non-specific features, making diagnosis occasionally difficult. The major features of this syndrome include mental retardation, characteristic facial appearance, short stature, microcephaly, and broad thumbs and halluces. This syndrome was first described by Rubinstein and Tabyi in 1963, and many studies have been continued about this syndrome, but specific pathogenesis of the Rubinstein-Tabyi syndrome phenotype is still not clear. High arched palate, micrognathia and multiple caries etc have been reported in Rubinstein-Tabyi syndrome. In this report, a 6-year and 5-month-old boy visited at our department due to multiple dental caries, who showed broad thumbs, mental and physical development retardation, and characteristic facial appearance including both ptosis and ear deformity. This patient was diagnosed as a Rubinstein-Tabyi syndrome, and treated the multiple dental caries under general anesthesia. This study was aimed to observe the relationship between medical and dental characteristics.