• 대한수의학회지
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• 제53권2호
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• pp.133-136
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• 2013

To report multiple congenital ocular defects in a Bedlington terrier dog aged 2.5 months with blindness. Routine ophthalmic examinations were performed for the clinical signs. Menace responses and cotton ball test were absent in both eyes (OU), but pupillary light reflexes were normal in OU. Slit lamp biomicroscopy reveled corneal dystrophy, posterior subcapsular cataract, microphthalmia in OU and lenticular coloboma in the right eye. In indirect ophthalmoscopy and ultrasonography, retinal detachment and posterior lenticonus were shown in OU. It is the first report of lenticular coloboma and posterior lenticonus in a Bedlington terrier dog.

• 대한두개안면성형외과학회지
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• 제9권2호
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• pp.90-92
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• 2008

선천성 안검 결손증이 신생아에서 관찰 되었을 때에는 각막의 노출이 있는지를 확인하고 조기에 수술적 교정을 해주어야 한다. 그러나 본 증례같이 안검결손이 심하지 않는 성인의 경우 기능적 결함보다는 미용적인 목적으로 수술을 시행하게 된다. 본 저자들은 다른 기형을 동반하지 않고 안과적인 합병증이 없었던 선천성 안검결손 1례를 경험하여 결손 부위 표피제거와 양측 안검연피판을 이용하여 재건함으로서 미용 및 기능적으로 만족할만한 결과를 얻었기에 문헌고찰과 함께 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.10-13
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• 2016

Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported. In this report, we describe a 1-year-old girl presenting with ptosis of the left upper eyelid, right auricular deformity, high-arched palate, delayed dentition, simian line on the right hand, microcephaly, and developmental delay. In this patient, we identified a deletion in the chromosome 11q13.2-q13.3 (2.75 Mb) region by using an array-comparative genomic hybridization analysis. The deletion in chromosome 11q13 results in a syndrome characterized by variable clinical manifestations. Some of these manifestations involve craniofacial dysmorphology and require a functional workup for hearing, ophthalmic examinations, and long-term dental care.

• 한국임상수의학회지
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• 제24권4호
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• pp.640-643
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• 2007

A 3-month-old female mixed breed cat was referred to the veterinary medical teaching hospital of Seoul National University with ocular discharge and blepharospasm of both eyes. On ophthalmic examination, the patient was diagnosed as multiple ocular defects : eyelid coloboma, keratoconjunctivitis sicca, persistent pupillary membrane, uveal cyst, incipient cataract and choroidal hypoplasia. On histopathologic examination, choroidal hypoplasia was confirmed.

• Journal of Genetic Medicine
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• 제10권2호
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• pp.109-112
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• 2013

Treacher Collins syndrome (TCS) is the most common and well known mandibulofacial dysostosis with characteristic clinical features including downward slanting of palpebral fissures, coloboma of the lower eyelid, hypoplastic zygomatic arches, micrognathia, macrostomia, microtia, and other deformities of the ears. TCS is caused by mutations in at least 3 genes involved in pre-rRNA transcription: TCOF1, POLR1D and POLR1C. We experienced a 1-day-old female infant with characteristic clinical features of TCS. A novel, heterozygotic mutation within the TCOF1 gene (c.3874_3875insG, p.Ala1292Glyfs*30) was identified to cause a premature stop codon.

• Clinical and Experimental Pediatrics
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• 제57권1호
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• pp.46-49
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• 2014

CHARGE syndrome has been estimated to occur in 1:10,000 births worldwide and shows various clinical manifestations. It is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. The major clinical features are ocular coloboma, heart malformations, atresia of the choanae, growth retardation, genital hypoplasia, and ear abnormalities. The chromodomain helicase DNA-binding protein 7 (CHD7) gene, located on chromosome 8q12.1, causes CHARGE syndrome. The CHD7 protein is an adenosine triphosphate (ATP)-dependent chromatin remodeling protein. A total of 67% of patients clinically diagnosed with CHARGE syndrome have CHD7 mutations. Five hundred twenty-eight pathogenic and unique CHD7 alterations have been identified so far. We describe a patient with a CHARGE syndrome diagnosis who carried a novel de novo mutation, a c.3896T>C (p. leu1299Pro) missense mutation, in the CHD7 gene. This finding will provide more information for genetic counseling and expand our understanding of the pathogenesis and development of CHARGE syndrome.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제30권5호
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• pp.422-427
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• 2004

안검열의 외하방 편위, 관골 형성부전, 하악골 형성부전, 하악 후퇴증, 소이증, 설하수, 구개열 등의 소견으로 간헐적인 청색증, 흉곽 함몰, 급성 기도 폐색에 의한 호흡곤란과 연하곤란 등의 임상 소견을 나타낸 Treacher Collins 증후군을 가진 환아에서 출생직후에 구강저골막하박리술과 설구순접합술을 이용한 외과적 치료를 시행한 결과 급성 기도 폐색에 의한 호흡곤란과 수유장애의 해소 뿐만 아니라 혀의 전방 재위치 등 만족할 만한 결과를 얻을 수 있었다. 향후 성장이 완료될 때까지 주기적 경과 관찰을 시행할 예정이며, 성장과정 중에 발생할 두개안면기형에 대해서는 정신사회학적 측면을 고려하여 가능한 한 조기에 교정해주고, 어느 일부분에 국한된 수술보다는 안면윤곽을 고려하여 복합적인 수술을 시행해야 할 것으로 사료된다.

• Journal of Genetic Medicine
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• 제12권1호
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• pp.57-60
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• 2015

CHARGE syndrome (coloboma, heart defects, atresia choanae, retarded growth and development, genital hypoplasia, and ear abnormalities) is characterized by multiple malformations and is diagnosed using distinct consensus criteria. Mutations in the gene encoding chromodomain helicase DNA-binding protein 7 (CHD7) are the major cause of CHARGE syndrome. Clinical features of CHARGE syndrome considerably overlap those of 22q11.2 deletion syndrome. Of these features, immunodeficiency and hypocalcemia are frequently reported in patients with 22q11.2 deletion syndrome but are rarely reported in patients with CHARGE syndrome. In this report, we have described the case of a patient with typical phenotypes of 22q11.2 deletion syndrome but without the proven chromosome microdeletion. Mutation analysis of CHD7 identified a pathogenic mutation (c.2238+1G>A) in this patient. To our knowledge, this is the first case of CHARGE syndrome with immunodeficiency and hypocalcemia in Korea. Our observations suggest that mutation analysis of CHD7 should be performed for patients showing the typical phenotypes of 22q11.2 deletion syndrome but lacking the proven chromosome microdeletion.

• Journal of Genetic Medicine
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• 제14권1호
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• pp.43-47
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• 2017

Cat eye syndrome (CES) is a very rare chromosomal syndrome characterized by various malformations such as anal atresia, preauricular malformation, coloboma of the iris, and congenial heart and renal defects. This genetic disorder is caused by partial duplication of chromosome 22, mostly as a result of a supernumerary isodicentric marker chromosome idic(22)(q11.2). Various congenital abnormalities and extreme phenotypic variability in CES patients have been reported, which have made prenatal diagnosis of CES difficult. We report the first case diagnosed with CES prenatally by multiplex ligation-dependent probe amplification in a woman who was referred to our hospital, for a fetus presenting with heart anomaly.

• 대한두개안면성형외과학회지
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• 제20권2호
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• pp.76-83
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• 2019

Background: The mental V-Y advancement flap method is useful for reconstruction of lower lip defect because of its many advantages. However, it is not easy to select the optimal reconstructive method for the vermilion defect that remains after application of the mental V-Y advancement flap. In choosing the representative surgical method for vermilion mucosal reconstruction including mucosal V-Y advancement flap, buccal mucosal flap, and buccal mucosal graft. We describe an efficient technique to large lower lip defects combining mental V-Y advancement flap and buccal mucosal graft Methods: This study included 16 patients who underwent reconstructive surgery for full-thickness and large defect (> half the entire width) of the lower lip from October 2006 to September 2017. The operation was conducted using mental V-Y advancement flap with various vermilion mucosal reconstruction methods considering the location of the defect and the amount of residual tissue of the lip coloboma after excision. Results: All patients underwent mental V-Y advancement flap. In vermilion mucosal reconstruction, five patients underwent mucosal V-Y advancement flap, three underwent buccal mucosal flap, and eight underwent buccal mucosal graft. There were good aesthetic and functional results in all patients who underwent buccal mucosal graft. However, two patients who underwent mucosal V-Y advancement flap complained of oral incompetence, and all patients who underwent buccal mucosal flap had oral commissure deformity. Conclusion: Buccal mucosal graft combined with mental V-Y advancement flap can produce suitable functional and aesthetic outcomes in near total lower lip reconstruction in patient with large mucosal defect including vermilion portion.