The Experts below are selected from a list of 219 Experts worldwide ranked by ideXlab platform
Beat Steinmann - One of the best experts on this subject based on the ideXlab platform.
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Prenatal ultrasound findings in a fetus with congenital contractural Arachnodactyly.
Ultrasound in Obstetrics & Gynecology, 2002Co-Authors: N. Kölble, Cheryl L Maslen, Darcie Babcock, Josef Wisser, Renate Huch, Beat SteinmannAbstract:Congenital contractural Arachnodactyly (CCA) or Beals–Hecht syndrome is an autosomal dominant disorder caused by mutations in the fibrillin-2 (FBN2) gene. The principal features of CCA are a marfanoid habitus, multiple congenital contractures, camptodactyly, Arachnodactyly, kyphoscoliosis, muscular hypoplasia, and external ear malformations. Our case is the first that shows typical sonographic signs in a fetus at 25 weeks' gestation with molecular genetically verified CCA in a large family with many members affected over four generations. This demonstrates that CCA can be detected prenatally by non-invasive ultrasonography. The importance of confirmation of CCA by means of DNA sequence analysis of the FBN2 gene is stressed. Copyright © 2002 International Society of Ultrasound in Obstetrics and Gynecology
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Prenatal ultrasound findings in a fetus with congenital contractural Arachnodactyly.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2002Co-Authors: N. Kölble, Cheryl L Maslen, Darcie Babcock, Josef Wisser, Renate Huch, Beat SteinmannAbstract:Congenital contractural Arachnodactyly (CCA) or Beals-Hecht syndrome is an autosomal dominant disorder caused by mutations in the fibrillin-2 (FBN2) gene. The principal features of CCA are a marfanoid habitus, multiple congenital contractures, camptodactyly, Arachnodactyly, kyphoscoliosis, muscular hypoplasia, and external ear malformations. Our case is the first that shows typical sonographic signs in a fetus at 25 weeks' gestation with molecular genetically verified CCA in a large family with many members affected over four generations. This demonstrates that CCA can be detected prenatally by non-invasive ultrasonography. The importance of confirmation of CCA by means of DNA sequence analysis of the FBN2 gene is stressed.
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genetic linkage of the marfan syndrome ectopia lentis and congenital contractural Arachnodactyly to the fibrillin genes on chromosomes 15 and 5
The New England Journal of Medicine, 1992Co-Authors: Petros Tsipouras, Maurice Godfrey, Richard B. Devereux, Richard Del Mastro, M Sarfarazi, Brendan Lee, Emilia Vitale, Anne H Child, Duncan Hewett, Beat SteinmannAbstract:Abstract Background. The large glycoprotein fibrillin is a structural component of elastin-containing microfibrils found in many tissues. The Marfan syndrome has been linked to the fibrillin gene on chromosome 15, but congenital contractural Arachnodactyly, which shares some of the physical features of the syndrome, has been linked to the fibrillin gene on chromosome 5. Methods. Using specific markers for the fibrillin genes, we performed genetic linkage analysis in 28 families with the Marfan syndrome and 8 families with four phenotypically related disorders — congenital contractural Arachnodactyly (3 families), ectopia lentis (2), mitral-valve prolapse syndrome (2), and annuloaortic ectasia (1). Results. Genetic linkage was established between the Marfan syndrome and only the fibrillin gene on chromosome 15, with a maximum lod score of 25.6 (odds for linkage, 1025.6:1). Ectopia lentis was also linked to the fibrillin gene on chromosome 15, whereas congenital contractural Arachnodactyly was linked to the...
Antonio Richieri-costa - One of the best experts on this subject based on the ideXlab platform.
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van den Ende-Gupta syndrome of blepharophimosis, Arachnodactyly, and congenital contractures.
American journal of medical genetics. Part A, 2005Co-Authors: Dania Guerra, Otto Sanchez, Antonio Richieri-costaAbstract:Here, we report on a Venezuelan child with manifestations of van den Ende-Gupta syndrome, including blepharophimosis, Arachnodactyly, and congenital contractures. We also review cases from the literature.
Cheryl L Maslen - One of the best experts on this subject based on the ideXlab platform.
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Prenatal ultrasound findings in a fetus with congenital contractural Arachnodactyly.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2002Co-Authors: N. Kölble, Cheryl L Maslen, Darcie Babcock, Josef Wisser, Renate Huch, Beat SteinmannAbstract:Congenital contractural Arachnodactyly (CCA) or Beals-Hecht syndrome is an autosomal dominant disorder caused by mutations in the fibrillin-2 (FBN2) gene. The principal features of CCA are a marfanoid habitus, multiple congenital contractures, camptodactyly, Arachnodactyly, kyphoscoliosis, muscular hypoplasia, and external ear malformations. Our case is the first that shows typical sonographic signs in a fetus at 25 weeks' gestation with molecular genetically verified CCA in a large family with many members affected over four generations. This demonstrates that CCA can be detected prenatally by non-invasive ultrasonography. The importance of confirmation of CCA by means of DNA sequence analysis of the FBN2 gene is stressed.
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Prenatal ultrasound findings in a fetus with congenital contractural Arachnodactyly.
Ultrasound in Obstetrics & Gynecology, 2002Co-Authors: N. Kölble, Cheryl L Maslen, Darcie Babcock, Josef Wisser, Renate Huch, Beat SteinmannAbstract:Congenital contractural Arachnodactyly (CCA) or Beals–Hecht syndrome is an autosomal dominant disorder caused by mutations in the fibrillin-2 (FBN2) gene. The principal features of CCA are a marfanoid habitus, multiple congenital contractures, camptodactyly, Arachnodactyly, kyphoscoliosis, muscular hypoplasia, and external ear malformations. Our case is the first that shows typical sonographic signs in a fetus at 25 weeks' gestation with molecular genetically verified CCA in a large family with many members affected over four generations. This demonstrates that CCA can be detected prenatally by non-invasive ultrasonography. The importance of confirmation of CCA by means of DNA sequence analysis of the FBN2 gene is stressed. Copyright © 2002 International Society of Ultrasound in Obstetrics and Gynecology
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A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural Arachnodactyly
Human Genetics, 1998Co-Authors: Darcie Babcock, Cheryll Gasner, Uta Francke, Cheryl L MaslenAbstract:Congenital contractural Arachnodactyly (CCA) is an autosomal dominant disorder of connective tissue and is characterized by multiple congenital contractures, Arachnodactyly, and external ear malformations. Recent investigations indicate that mutations in the fibrillin-2 gene (FBN2) cause CCA. Here, we report a G→C transversion at nucleotide 3340 (G3340C) of FBN2 in a family with phenotypic characteristics of CCA. The G3340C mutation predicts the substitution of histidine for aspartic acid at amino acid residue 1114 (Asp1114His) and also alters the 5’ donor splice site consensus sequence of exon 25. Reverse transcription/polymerase chain reaction and DNA sequence analyses demonstrate that this missense mutation also causes low level in-frame mis-splicing of exon 25 (del exon 25). Consequently, this single point mutation produces a heterogeneous population of mutant fibrillin-2 molecules in a single individual. Despite the complex manifestation of the mutation, it is associated with a relatively mild phenotype. Analysis of FBN2 allele expression in cultured dermal fibroblasts derived from the proband has shown that the mutant allele is preferentially expressed, contributing about 84% of the total transcript. This indicates that an overabundance of mutant transcript does not necessarily correlate with a more severe CCA phenotype.
Darcie Babcock - One of the best experts on this subject based on the ideXlab platform.
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Prenatal ultrasound findings in a fetus with congenital contractural Arachnodactyly.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2002Co-Authors: N. Kölble, Cheryl L Maslen, Darcie Babcock, Josef Wisser, Renate Huch, Beat SteinmannAbstract:Congenital contractural Arachnodactyly (CCA) or Beals-Hecht syndrome is an autosomal dominant disorder caused by mutations in the fibrillin-2 (FBN2) gene. The principal features of CCA are a marfanoid habitus, multiple congenital contractures, camptodactyly, Arachnodactyly, kyphoscoliosis, muscular hypoplasia, and external ear malformations. Our case is the first that shows typical sonographic signs in a fetus at 25 weeks' gestation with molecular genetically verified CCA in a large family with many members affected over four generations. This demonstrates that CCA can be detected prenatally by non-invasive ultrasonography. The importance of confirmation of CCA by means of DNA sequence analysis of the FBN2 gene is stressed.
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Prenatal ultrasound findings in a fetus with congenital contractural Arachnodactyly.
Ultrasound in Obstetrics & Gynecology, 2002Co-Authors: N. Kölble, Cheryl L Maslen, Darcie Babcock, Josef Wisser, Renate Huch, Beat SteinmannAbstract:Congenital contractural Arachnodactyly (CCA) or Beals–Hecht syndrome is an autosomal dominant disorder caused by mutations in the fibrillin-2 (FBN2) gene. The principal features of CCA are a marfanoid habitus, multiple congenital contractures, camptodactyly, Arachnodactyly, kyphoscoliosis, muscular hypoplasia, and external ear malformations. Our case is the first that shows typical sonographic signs in a fetus at 25 weeks' gestation with molecular genetically verified CCA in a large family with many members affected over four generations. This demonstrates that CCA can be detected prenatally by non-invasive ultrasonography. The importance of confirmation of CCA by means of DNA sequence analysis of the FBN2 gene is stressed. Copyright © 2002 International Society of Ultrasound in Obstetrics and Gynecology
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A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural Arachnodactyly
Human Genetics, 1998Co-Authors: Darcie Babcock, Cheryll Gasner, Uta Francke, Cheryl L MaslenAbstract:Congenital contractural Arachnodactyly (CCA) is an autosomal dominant disorder of connective tissue and is characterized by multiple congenital contractures, Arachnodactyly, and external ear malformations. Recent investigations indicate that mutations in the fibrillin-2 gene (FBN2) cause CCA. Here, we report a G→C transversion at nucleotide 3340 (G3340C) of FBN2 in a family with phenotypic characteristics of CCA. The G3340C mutation predicts the substitution of histidine for aspartic acid at amino acid residue 1114 (Asp1114His) and also alters the 5’ donor splice site consensus sequence of exon 25. Reverse transcription/polymerase chain reaction and DNA sequence analyses demonstrate that this missense mutation also causes low level in-frame mis-splicing of exon 25 (del exon 25). Consequently, this single point mutation produces a heterogeneous population of mutant fibrillin-2 molecules in a single individual. Despite the complex manifestation of the mutation, it is associated with a relatively mild phenotype. Analysis of FBN2 allele expression in cultured dermal fibroblasts derived from the proband has shown that the mutant allele is preferentially expressed, contributing about 84% of the total transcript. This indicates that an overabundance of mutant transcript does not necessarily correlate with a more severe CCA phenotype.
Ergül Tuncbilek - One of the best experts on this subject based on the ideXlab platform.
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Congenital contractural Arachnodactyly (Beals syndrome)
Orphanet journal of rare diseases, 2006Co-Authors: Ergül Tuncbilek, Yasemin AlanayAbstract:Congenital contractural Arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, Arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. It is caused by a mutation in FBN2 gene on chromosome 5q23. Although the clinical features can be similar to Marfan syndrome (MFS), multiple joint contractures (especially elbow, knee and finger joints), and crumpled ears in the absence of significant aortic root dilatation are characteristic of Beals syndrome and rarely found in Marfan syndrome. The incidence of CCA is unknown and its prevalence is difficult to estimate considering the overlap in phenotype with MFS; the number of patients reported has increased following the identification of FBN2 mutation. Molecular prenatal diagnosis is possible. Ultrasound imaging may be used to demonstrate joint contractures and hypokinesia in suspected cases. Management of children with CCA is symptomatic. Spontaneous improvement in camptodactyly and contractures is observed but residual camptodactyly always remains. Early intervention for scoliosis can prevent morbidity later in life. Cardiac evaluation and ophthalmologic evaluations are recommended.
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Congenital contractural Arachnodactyly and femoral fracture in a newborn infant: a causal relationship or a coincidence?
American journal of perinatology, 2004Co-Authors: Serhan Küpeli, Ayşe Korkmaz, Almila Bulun, Murat Yurdakök, Ergül TuncbilekAbstract:Congenital contractural Arachnodactyly (CCA, Beals syndrome) is an autosomal-dominant connective tissue disorder characterized by multiple flexion contractures, Arachnodactyly, severe kyphoscoliosis, abnormal pinnae, and muscular hypoplasia. Although it is a connective tissue disorder affecting bone structure and formation, coexistence of bony fractures in CCA patients have not been reported before. In this article we report a newborn infant diagnosed with CCA who developed a femoral fracture possibly due to abnormal bone structure and birth injury in spite of cesarean delivery.