Fandom

Psychology Wiki

Genetic counseling: Craniosynostosis-1

34,203pages on
this wiki
Add New Page
Talk0 Share

Assessment | Biopsychology | Comparative | Cognitive | Developmental | Language | Individual differences | Personality | Philosophy | Social |
Methods | Statistics | Clinical | Educational | Industrial | Professional items | World psychology |

Clinical: Approaches · Group therapy · Techniques · Types of problem · Areas of specialism · Taxonomies · Therapeutic issues · Modes of delivery · Model translation project · Personal experiences ·


Craniosynostosis

OverviewEdit

  • Craniosynostosis refers to the premature fusion of the cranial sutures (growth centers between the bones of the skull)
  • The skull is made up of a number of bones and when those bones fuse together too soon it doesn't allow the head to grow in the usual fashion and can lead to changes in head shape
  • Usually cranial sutures do not fuse completely until the fourth decade

Primary vs. secondary craniosynostosisEdit

  • Primary
  • suture growth is altered
  • head frequently assymmetric
  • the brain continues to grow in areas where sutures are open
  • most individuals are normal neurologically
  • benefit from surgery
  • Secondary
  • growth of brain is impaired
  • neurologically abnormal usually

Isolated vs. SyndromicEdit

  • Isolated
  • usually presents during first year of life
  • usually involves only one cranial suture (may involve more than one though)
  • no other associated abnormalities except those produced secondarily as a result of premature fusion of suture
  • sagittal suture is most common site for isolated craniosynostosis
  • suture that runs from front to back and separates parietal bones
  • results in head elongated from front to back due to limited growth laterally (scaphocephaly)
  • intracranial pressure is usually in the normal range
  • cranial surgery usually recommended to give a more usual head shape
  • usually babies with isolated craniosynostosis grow and develop normally
  • Syndromic
  • Other characteristic features present
  • over 60 syndromes described with craniosynostosis as a feature
  • bicoronal synostosis is the type present in the most common syndromes
  • Most follow AD inheritance
  • Most individuals with a craniosynostosis syndrome have normal intelligence
  • Saethre-Chotzen syndrome is the most common
  • characterized by facial asymmetry, low frontal hairline, ptosis, deviated nasal septum, brachydactyly, and partial cutaneous syndactyly of the toes
  • Crouzon - next most common (1 in 25,000 live births)
  • characterized by maxillary hypoplasia, shallow orbits, and ocular proptosis
  • Apert syndrome
  • characterized by strabismus, maxillary hypoplasia
  • complete symmetrical syndactyly of hands and feet
  • associated with risk for developmental delay (unlike most of the other AD craniosynostosis syndromes)
  • Pfeiffer syndrome
  • maxillary hypoplasia
  • broad thumbs and big toes
  • mild cutaneous syndactyly

Incidence of isolated nonsyndromic craniosynostosisEdit

  • 0.4-0.6 per 1000 births
  • so about 1 in 2000 births (Fetology, 2000)

Recurrence risks for isolated nonsyndromic craniosynostosisEdit

  • usually sporadic
  • genetic basis not discovered except for certain cases of unicoronal synostosis
  • In study of 125 patients with craniosynostosis only 2.5% of those with isolated synostosis had positive family history
  • patients with isolated craniosynostosis and a negative family history are not believed to have an increased incidence of recurrence above the background

Ultrasound detection of craniosynostosisEdit

  • difficult to detect on ultrasound
  • when it is detected it is often not until 3rd trimester
  • sometimes features associated with syndrome are detected on ultrasound (fused digits etc)

Surgery

  • objective is to allow adequate brain growth and imporve appearance
  • Surgery for isolated craniosynostosis is usually a single operation and produces excellent cosmetic results in 93%

ReferencesEdit

NotesEdit

The information in this outline was last updated in 2003.


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."

Ad blocker interference detected!


Wikia is a free-to-use site that makes money from advertising. We have a modified experience for viewers using ad blockers

Wikia is not accessible if you’ve made further modifications. Remove the custom ad blocker rule(s) and the page will load as expected.

Also on Fandom

Random Wiki