Literature DB >> 6465201

Cardiovascular findings in congenital contractural arachnodactyly: report of an affected kindred.

R A Anderson, S Koch, R D Camerini-Otero.   

Abstract

Three generations of a kindred had a history and physical findings consistent with congenital contractural arachnodactyly (CCA) segregating in an autosomal-dominant manner. Six of the seven affected patients we examined had mitral valve prolapse (MVP) diagnosed clinically or by echocardiography. The family members without CCA did not have MVP. This association of cardiac involvement with CCA further lessens the distinction between CCA and the Marfan syndrome. The indication for ophthamologic and echocardiographic follow-up of patients carrying the diagnosis of CCA is stressed.

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Year:  1984        PMID: 6465201     DOI: 10.1002/ajmg.1320180210

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  9 in total

1.  Cardiac anomalies complicating congenital contractural arachnodactyly.

Authors:  A J Macnab; L D'Orsogna; D E Cole; P E Baguley; R J Adderley; M W Patterson
Journal:  Arch Dis Child       Date:  1991-10       Impact factor: 3.791

2.  A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.

Authors:  C Maslen; D Babcock; M Raghunath; B Steinmann
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

3.  Infantile scoliosis in Beals syndrome: the use of a non-fusion technique for surgical correction.

Authors:  Anthony Gwynne Martin; Pedro R Foguet; David S Marks; A G Thompson; A H Child
Journal:  Eur Spine J       Date:  2005-09-20       Impact factor: 3.134

4.  Pulmonary non-tuberculous mycobacterial infection in congenital contractural arachnodactyly.

Authors:  M L Paulson; K N Olivier; S M Holland
Journal:  Int J Tuberc Lung Dis       Date:  2012-04       Impact factor: 2.373

5.  Contractural arachnodactyly with mitral regurgitation and iridodonesis.

Authors:  I C Huggon; J P Burke; J F Talbot
Journal:  Arch Dis Child       Date:  1990-03       Impact factor: 3.791

6.  Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency.

Authors:  I M Buntinx; P J Willems; S E Spitaels; P J Van Reempst; A M De Paepe; J E Dumon
Journal:  J Med Genet       Date:  1991-04       Impact factor: 6.318

7.  Ocular phenotype of Fbn2-null mice.

Authors:  Yanrong Shi; Yidong Tu; Robert P Mecham; Steven Bassnett
Journal:  Invest Ophthalmol Vis Sci       Date:  2013-11-01       Impact factor: 4.799

8.  Dilatation of the great arteries in an infant with marfan syndrome and ventricular septal defect.

Authors:  L Rozendaal; N A Blom; Y Hilhorst-Hofstee; A D J Ten Harkel
Journal:  Case Rep Med       Date:  2011-07-12

9.  Congenital contractural arachnodactyly suspected by abnormally long extremities by fetal ultrasound.

Authors:  Ryuta Miyake; Mayuko Ichikawa; Katsuhiko Naruse
Journal:  BMJ Case Rep       Date:  2021-03-01
  9 in total

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