• 대한구순구개열학회지
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• 제3권1호
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• pp.33-36
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• 2000

Cornelia de Lange syndrome is a disorder of unknown biochemical and geneic basis that is recognized on the basis of characteristic facies(low anterior hairline, synophrys, anteverted nares, maxillary prognathism, long philtrum, carp mouth) in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. We treated the patient with incomplete cleft palate related to Cornelia de Lange syndrome.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제14권1호
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• pp.123-127
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• 2003

Cornelia de Lange 증후군은 여러 신체 기관의 선천적 기형과 성장지연, 신경 발달학적 이상을 동반하는 질환이다. 어떠한 생화학적 혹은 염색체 표지자도 아직까지 Cornelia de Lange 증후군에 특이적인 소견은 발견되지 못하였고 진단은 임상적인 관찰에 전적으로 의존하게 되어있다. 따라서 임상가의 경험이 본 질환의 발견에 중요한 만큼 저자들은 정신지체와 자폐장애를 보이는 Cornelia de Lange 증후군 사례를 보고하는 바이다. 본 증례의 환아는 6세 4개월의 여환으로 걷기 등의 운동발달이 늦었다고 하며 현재까지도 한단어도 말하지 못하는 심각한 언어지체를 보였다. 또한 눈 맞춤이 빈약하고 타인과 정서적 교류가 되지 않는 등 사회적 상호작용의 저하와 상동행동을 보였으며 따라서 정신지체와 자폐장애로 진단 할 수 있었다. 환아는 저신장을 보였고 눈썹이 짙고 속눈썹도 길고 짙었으며 치아 간격이 넓고 코 끝이 들려 있었으며 입주위에 수염이 나 있었다. 낮은 헤어라인을 보였고 몸통과 사지에 다모증을 보였으며 손가락은 짧은 편이었다. 방광 요관 역류와 잦은 상기도 감염과 폐렴의 과거력이 있었고 4차례 열성경련이 있었다. 본 증례의 경우 특징적인 얼굴 모습과 성장발달지연, 정신지체, 행동양상, 동반된 내과적 질환의 병력 등으로 Cornelia de Lange 증후군으로 진단할 수 있었다.

• 대한소아치과학회지
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• 제38권1호
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• pp.56-61
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• 2011

Cornelia de Lange 증후군(Cornelia de Lange Syndrome)은 성장지연, 정신지체, 골격과 외모의 이상을 특징으로 하는 선천성 희귀병이다. 대표적 합병증으로는 위-식도 역류증이 있는데, 이로 인한 구토증은 기도를 폐쇄하여 질식의 우려가 있으므로 전신마취 시 특별한 주의가 요구된다. 10세 4개월 Cornelia de Lange 증후군 환아가 치아우식증을 주소로 서울대학교 치과병원 소아치과에 내원하였다. 임상적으로 하악 왜소증, 치열 총생, 왜소치, 치아우식증, 치아부식증, 구개수열의 소견을 보였으며, 중증의 정신지체 및 청각장애로 인해 환자 협조도가 부족하여 외래 전신마취 하에 치과치료를 시행하였기에 보고하는 바이다.

• 대한소아치과학회지
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• 제31권1호
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• pp.120-125
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• 2004

Cornelia de Lange Syndrome은 이형성적 특징들에 의해 특징 지워지는 증후군으로서 정확히 알려지지 않은 원인을 가진 이상증이다. 이 증후군은 이형성적 임상증상에 의거하여 진단되기 때문에 염색체 검사, 유전자 검사 등의 진단 목적의 다른 검사들은 유효하지 않다고 할 수 있다. 임상증상으로는 전반적 발육 장애 정신지체, 외소증 다모증(hypertrichosis), 갈매기 모양의 눈썹(confluent eye brows), 낮은 헤어라인, 낮고 평평한 코, 위로 들린 코끝, 사지 기형, 발가락의 합지증(webbing), 심장기형, 위식도 역류 질환, 청력 이상, 그리고 안 질환 등이 나타나며 구강관련 증상으로는 왜소악 치아 맹출 지연, 구순 구개열, 높은 구개궁, 얇은 상순, 그리고 처진 구각 등이 나타난다. 본 증례에서는 전북대학교병원 소아치과에 치아 우식증을 주소로 내원한 Cornelia do Lange Syndrome을 가진 3세 및 4세 여환의 치료 예를 보고하는 바이다.

• Journal of Yeungnam Medical Science
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• 제36권2호
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• pp.152-154
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• 2019

Cornelia de Lange syndrome (CdLS) is a rare multisystemic disorder that is characterized by mental retardation, prenatal and postnatal growth retardation, limb anomalies, and distinctive facial features, which include arched eyebrows that often meet in the middle (synophrys), long eyelashes, low-set ears, small and widely spaced teeth, and a small and upturned nose. Ophthalmic manifestations include long eyelashes, nasolacrimal duct obstruction, myopia, ptosis, and strabismus. There has been no report of surgical treatment for esotropia and unilateral ptosis in patients with CdLS in Korea. I report a patient with CdLS who underwent surgical treatment for esotropia and unilateral ptosis with a good surgical outcome.

• Journal of Yeungnam Medical Science
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• 제35권2호
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• pp.219-221
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• 2018

Management of airway in a child with Cornelia de Lange Syndrome (CdLS) should be given due consideration because most of them have the problems related to difficult airway. The GlideScope video laryngoscope can be attempted during routine intubation, however it is mostly used in case of difficulty. With adequate preoperative airway assessment, we used the pediatric video laryngoscope as useful alternative airway device in a child with CdLS and orotracheal intubation proceeded uneventfully.

• Journal of Genetic Medicine
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• 제15권1호
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• pp.24-27
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• 2018

Cornelia de Lange syndrome (CdLS) is a rare, clinically and genetically heterogeneous, multi-system developmental disorder caused by mutations in genes that encode components of the cohesin complex. X-linked CdLS caused by an SMC1A mutation is an extremely rare disease characterized by phenotypes milder than those of classic CdLS. In the Republic of Korea, based on a literature review, one family with SMC1A-related CdLS with mild phenotypes has been genetically confirmed to date. In this study, we describe the clinical features of a Korean boy with a hemizygous novel missense mutation and his mother with a heterozygous mutation, i.e., c.2447G>A (p.Arg816His) in SMC1A, identified by multi-gene panel sequencing. The proband had a mild phenotype with typical facial features and his mother exhibited a mild, subclinical phenotype. This study expands the clinical spectrum of patients with X-linked CdLS caused by SMC1A variants. Moreover, these findings reinforce the notion that a dominant negative effect in a carrier female with a heterozygous mutation in SMC1A results in a phenotype milder than that in a male patient with the same mutation.

• Journal of Genetic Medicine
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• 제19권2호
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• pp.85-93
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• 2022

Purpose: Cornelia de Lange syndrome (CdLS) is a rare genetically heterogeneous disorder caused by genetic variants of the cohesin complex. However, the diverse genetic etiologies and their phenotypic correlations in Korean patients with CdLS are still largely unknown. Hence, this study aimed to clarify the clinical characteristics and genetic background of Korean patients with CdLS. Materials and Methods: The medical records of 15 unrelated patients (3 males and 12 females) genetically confirmed to have CdLS were retrospectively reviewed. All individuals were diagnosed with CdLS using target gene analysis, whole-exome sequencing, and/or chromosomal microarray analysis. The clinical score (CS) was calculated to assess disease severity. Results: The median age at diagnosis was 1.7 (range, 0.0-11.8) years, and median follow-up duration was 3.8 (range, 0.4-11.7) years. Eight (53.3%) patients showed classic phenotypes of CdLS, two (13.3%) showed non-classic phenotypes, and five (33.3%) had other phenotypes sharing limited signs of CdLS. Fifteen causative variants were identified: NIPBL in five (33.3%, including 3 males), SMC1A in three (20.0%), SMC3 in three (20.0%), and HDAC8 in four (26.7%) patients. The CS was significantly higher in the NIPBL group than in the non-NIPBL group (14.2±1.3 vs. 8.7±2.9, P<0.001). Conclusion: We identified the clinical and genetic heterogeneity of CdLS in Korean patients. Patients with variants of NIPBL had a more distinctive phenotype than those carrying variants of other cohesin complex genes (SMC1A, SMC3, and HDAC8). However, further studies are warranted to understand the pathogenesis of CdLS as a cohesinopathy and its genotype-phenotype correlations.

• 대한음성학회:학술대회논문집
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• 대한음성학회 2007년도 한국음성과학회 공동학술대회 발표논문집
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• pp.146-148
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• 2007

Studies of cry characteristics in the newborn infant were aimed to determine if cry analysis could be succesful in the early detection of the infant at risk for developmental difficulties. Crying presupposes functioning of the respiratory, laryngeal and supralaryngeal muscles. The nervous system controls the capacity, stability, and co-ordination of the movements in these muscles. Hence, the cry provides information about how the Nervous System is functioning. 3 patients(down syndrome, cornelia de lange syndrome, Patent ductus arteriosus) were assessed through a Computerized Speech Lab (CSL). Tests had been chosen to assess Fundamental frequency(mean, maximum, minimum values), Melody contour, NHR, Energy. We compared the data from patients and healthy volunteer. Variations in cry characteristics were documented in a number of medical abnormalities.