Craniosynostosis: Difference between revisions
Jump to navigation
Jump to search
No edit summary |
|||
| Line 13: | Line 13: | ||
== Syndromic craniosynostosis == | == Syndromic craniosynostosis == | ||
=== Selected craniofacial dysmorphic syndromes === | |||
{| class="wikitable" | |||
!Syndrome | |||
!Sporadic | |||
!Inherited | |||
!Craniofacial findings | |||
!Associated findings | |||
|- | |||
|Crouzon Syndrome (craniofacial dysostosis) | |||
|Yes (25%) | |||
|FGFR2 (AD) | |||
|Craniosynostosis of coronal & basal skull sutures, maxillary hypoplasia, shallow orbits, proptosis | |||
|HCP rare | |||
|- | |||
|Apert Syndrome (acrocephalosyndactyly) (MC) | |||
|Yes (95%) | |||
|FGFR2 (AD) | |||
|same as Crouzon | |||
|Syndactyly of digits 2, 3, 4; shortened UE, HCP common | |||
|- | |||
|Kleeblattschädel Syndrome | |||
|Yes | |||
|AD | |||
|Craniosynostosis /w trilobular skull | |||
|isolated, or with Apert's or thanatophoric dwarfism | |||
|} | |||
[[Category:Pediatric Neurosurgery]] | [[Category:Pediatric Neurosurgery]] | ||
[[Category:Cranial Development Abnormalities]] | [[Category:Cranial Development Abnormalities]] | ||
Revision as of 14:04, 3 February 2024
Types of craniosynostosis
Nonsyndromic Craniosynostosis
Single suture craniosynostosis
Pathology
- Bone growth primarily perpendicular to & occurring at suture lines; premature fusion → abnormal growth
Classification of single suture craniosynostosis
Syndromic craniosynostosis
Selected craniofacial dysmorphic syndromes
| Syndrome | Sporadic | Inherited | Craniofacial findings | Associated findings |
|---|---|---|---|---|
| Crouzon Syndrome (craniofacial dysostosis) | Yes (25%) | FGFR2 (AD) | Craniosynostosis of coronal & basal skull sutures, maxillary hypoplasia, shallow orbits, proptosis | HCP rare |
| Apert Syndrome (acrocephalosyndactyly) (MC) | Yes (95%) | FGFR2 (AD) | same as Crouzon | Syndactyly of digits 2, 3, 4; shortened UE, HCP common |
| Kleeblattschädel Syndrome | Yes | AD | Craniosynostosis /w trilobular skull | isolated, or with Apert's or thanatophoric dwarfism |