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Genetic counseling: Beal's Syndrome

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Beal's Syndrome

IntroductionEdit

  • What do you know about why you're here?

ContractingEdit

  • Get medical information about the child
  • Get some pregnancy history
  • Get family history
  • Doctor will examine
  • Discuss findings and answer any questions

Beals Syndrome (Contractural Arachnodactyly Syndrome)Edit

  • Basic features
    • Long slender limbs and fingers (arachnodactyly) 86%
    • Bent fingers (camptodactyly) 78%
    • Joint contractures, esp.knees (stiff joints), elbows, hips
    • Short neck
    • Decreased calcification of the bones
    • Bending of the spine (kyphoscoliosis)
    • Inward turned feet (metatarsus varus)
    • Ears = elongated lobes with crumpled appearance
    • Occasional micrognathia, scaphocephaly, iris coloboma, ASD and VSD
  • Changes as the child grows
    • Gradual improvement in joint movements
  • Genetics
    • Autosomal dominant
    • Linked to fibrillin locus on chrom. 5 (FBN2 gene)

ResourcesEdit

  • National Organization for Rare Disorders, Inc.(NORD)
P.O. Box 8923
New Fairfield, CT 06812-8923
Telephone: (203) 746-6518
Fax: (203) 746-6481
Toll free: (800) 999-6673
TDD: (203) 746-6927
e-mail: orphan@rarediseases.org
Home Page: [1]

NotesEdit

The information in this outline was last updated in 2000.



Material obtained under GFDL Licence from http://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling

Heckert GNU white Permission is granted to copy, distribute and/or modify this document under the terms of the GNU Free Documentation License, Version 1.2 or any later version published by the Free Software Foundation; with no Invariant Sections, no Front-Cover Texts, and no Back-Cover Texts. A copy of the license is included in the section entitled "GNU Free Documentation License."

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