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      KCI등재 SCI SCIE SCOPUS

      Dental Findings in Cornelia De Lange Syndrome

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      https://www.riss.kr/link?id=A101618456

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      다국어 초록 (Multilingual Abstract)

      Cornelia de Lange syndrome is a congenital disease, basically characterized by psychomotor retardation associated with a
      series of malformations, including mainly skeletal, craniofacial deformities together with gastrointestinal and cardiac
      malformations. There is no definitive biochemical or chromosomal marker for the prenatal diagnosis of this syndrome. We
      actually want to present the case of a 10-year-old patient, who was admitted to our clinic for dental pain. The patient had the
      symptoms of Cornelia de Lange syndrome. During the oral examination of this patient, the patient was found to have the
      typical symptoms of Cornelia de Lange syndrome, such as micrognathia and delayed eruption in conjunction with the
      symptoms of the Hutchinson’s syndrome, which had never been reported before.
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      Cornelia de Lange syndrome is a congenital disease, basically characterized by psychomotor retardation associated with a series of malformations, including mainly skeletal, craniofacial deformities together with gastrointestinal and cardiac malforma...

      Cornelia de Lange syndrome is a congenital disease, basically characterized by psychomotor retardation associated with a
      series of malformations, including mainly skeletal, craniofacial deformities together with gastrointestinal and cardiac
      malformations. There is no definitive biochemical or chromosomal marker for the prenatal diagnosis of this syndrome. We
      actually want to present the case of a 10-year-old patient, who was admitted to our clinic for dental pain. The patient had the
      symptoms of Cornelia de Lange syndrome. During the oral examination of this patient, the patient was found to have the
      typical symptoms of Cornelia de Lange syndrome, such as micrognathia and delayed eruption in conjunction with the
      symptoms of the Hutchinson’s syndrome, which had never been reported before.

      더보기

      다국어 초록 (Multilingual Abstract)

      Cornelia de Lange syndrome is a congenital disease, basically characterized by psychomotor retardation associated with a
      series of malformations, including mainly skeletal, craniofacial deformities together with gastrointestinal and cardiac
      malformations. There is no definitive biochemical or chromosomal marker for the prenatal diagnosis of this syndrome. We
      actually want to present the case of a 10-year-old patient, who was admitted to our clinic for dental pain. The patient had the
      symptoms of Cornelia de Lange syndrome. During the oral examination of this patient, the patient was found to have the
      typical symptoms of Cornelia de Lange syndrome, such as micrognathia and delayed eruption in conjunction with the
      symptoms of the Hutchinson’s syndrome, which had never been reported before.
      번역하기

      Cornelia de Lange syndrome is a congenital disease, basically characterized by psychomotor retardation associated with a series of malformations, including mainly skeletal, craniofacial deformities together with gastrointestinal and cardiac malformati...

      Cornelia de Lange syndrome is a congenital disease, basically characterized by psychomotor retardation associated with a
      series of malformations, including mainly skeletal, craniofacial deformities together with gastrointestinal and cardiac
      malformations. There is no definitive biochemical or chromosomal marker for the prenatal diagnosis of this syndrome. We
      actually want to present the case of a 10-year-old patient, who was admitted to our clinic for dental pain. The patient had the
      symptoms of Cornelia de Lange syndrome. During the oral examination of this patient, the patient was found to have the
      typical symptoms of Cornelia de Lange syndrome, such as micrognathia and delayed eruption in conjunction with the
      symptoms of the Hutchinson’s syndrome, which had never been reported before.

      더보기

      참고문헌 (Reference)

      1 Jackson L, "de Lange syndrome: a clinical review of 310 individuals" 47 : 940-946, 1993

      2 Barrett AW, "The de Lange syndrome in association with a bleeding tendency: oral surgical implications" 22 : 171-172, 1993

      3 Aitken DA, "Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies" 19 : 706-710, 1999

      4 Braddock SR, "Radiological features in Brachmann-de Lange syndrome" 47 : 1006-1013, 1993

      5 Kline AD, "Growth manifestations in the Brachmann-de Lange syndrome" 47 : 1042-1049, 1993

      6 Krantz ID, "Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome" 101 : 120-129, 2001

      7 Allanson JE, "De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes" 34 : 645-650, 1997

      8 Grau Carbó J, "Cornelia de Lange syndrome: a case report" 12 : E445-E448, 2007

      9 Yamamoto K, "Cornelia de Lange syndrome with cleft palate" 16 : 484-491, 1987

      10 Van Allen MI, "Clinical variability within Brachmann-de Lange syndrome: a proposed classification system" 47 : 947-958, 1993

      1 Jackson L, "de Lange syndrome: a clinical review of 310 individuals" 47 : 940-946, 1993

      2 Barrett AW, "The de Lange syndrome in association with a bleeding tendency: oral surgical implications" 22 : 171-172, 1993

      3 Aitken DA, "Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies" 19 : 706-710, 1999

      4 Braddock SR, "Radiological features in Brachmann-de Lange syndrome" 47 : 1006-1013, 1993

      5 Kline AD, "Growth manifestations in the Brachmann-de Lange syndrome" 47 : 1042-1049, 1993

      6 Krantz ID, "Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome" 101 : 120-129, 2001

      7 Allanson JE, "De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes" 34 : 645-650, 1997

      8 Grau Carbó J, "Cornelia de Lange syndrome: a case report" 12 : E445-E448, 2007

      9 Yamamoto K, "Cornelia de Lange syndrome with cleft palate" 16 : 484-491, 1987

      10 Van Allen MI, "Clinical variability within Brachmann-de Lange syndrome: a proposed classification system" 47 : 947-958, 1993

      11 Zankl A, "Brachmann-de Lange syndrome (BDLS) with asymmetry and skin pigmentary anomalies: a result of mosaicism for a putative BDLS gene mutation?" 118A : 358-361, 2003

      12 Sakai Y, "Auditory brainstem responses and usefulness of hearing aids in hearing impaired children with Cornelia de Lange syndrome" 66 : 63-69, 2002

      13 Sarimski K, "Analysis of intentional communication in severely handicapped children with Cornelia-de-Lange syndrome" 35 : 483-500, 2002

      14 Corsini LM, "Anaesthetic implications of Cornelia de Lange syndrome" 8 : 159-161, 1998

      15 Huang WH, "Abnormal first-trimester fetal nuchal translucency and Cornelia de Lange syndrome" 99 : 956-958, 2002

      16 Brylewski J, "A typical case of Cornelia de Lange’s syndrome" 1 : 756-, 1978

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      학술지 인용정보
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