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Genetic counseling: Craniosynostosis-2

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Craniosynostosis

IntroductionEdit

  • Myself, GC, Doc
  • What have you been told in the past?

ContractingEdit

  • Medical History
  • Family History
  • Physical exam
  • Answer any questions you have

Medical History/Pregnancy historyEdit

  • Progress since the surgery
  • Breathing difficulties when he was younger?/ Now? Did he require a trach?
  • How's his feeding before? / Now?
  • What does he currently eat? / How much?
  • How was the delivery? / vaginal?
  • When did you first suspect something was different?

Family HistoryEdit

  • Any people with funny shaped heads?
  • Basics : birth defects, cancer at an early age, MR, miscarriages, etc.

CraniosynostosisEdit

  • Definition
    • Premature closure of the cranial sutures (joints between the bones of the skull)
    • The severity and type depend upon which of the four sutures fuse together too early: sagittal, coronal, metopic, or lambdoid.
    • The shape of the head is dependant upon which of the sutures is closed early.
    • Six disorders called the FGFR-related craniosynostosis - most are related to those coronal craniosynostosis, NOT SAGITTAL!!!!! (probably do not apply in this case)
  • Incidence
    • Overall = 1/2000 - 1/2500 live births
  • Characteristics of the FGFR-related ones
    • Normal intelligence in many cases/DD and MR in others
    • Hypertelorism
    • Midface hypoplasia
    • Small beaked nose
    • Prognathism
    • High arched palate
    • Choanal atresia or stenosis
    • Fusion of fingers or toes
  • Genetics
    • Autosomal dominant for the FGFR related (fibroblast growth factor receptors)
    • Sporadic in most cases
    • A mutation in the FGFR3 gene which is responsible for keeping things from getting too long (inhibits growth usually). When mutated, it seems to be over expressed = failure of things to grow completely causing early fusion of the skull and fingers/toes.
  • Recurrence risks (empirical -isolated cases)
    • Risk to siblings with two unaffected parents = coronal 5%
    • Risk to siblings with two unaffected parents = sagittal 1%

Sagittal synostosisEdit

  • Definition: when the sagittal suture fuses prematurely. It runs from the front of the head to the back and creates a boat-like head because the front and back of the skull bulge outwards to allow the brain to grow.
  • Surgery repairs it by removing the sutures and widening the skull by opening both the lambdoid and coronal sutures on either side. Bone grafts may be placed inside to keep the skull wide enough.
  • The most common of the craniosynostoses = 1/5250 incidence
  • Typically isolated conditions/ not related to a syndrome.

ResourcesEdit

  • National Organization for Rare Disorders
PO Box 8923
New Fairfield, CT 06812-1783
800 999-6673
www.rarediseases.org
  • March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
800 MODIMES (663-4637)
www.modimes.org
  • ARC of the United States
300 East Border Street Suite 300
Arlington, TX 76010
(817) 261-6003
  • Craniosupport.com
A parent organization on the web who have information and resources for people with all types of craniosynostosis and related syndromes before and after surgery.
http://members.aol.com/craniosupport/support.html

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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