Craniosynostosis

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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

MC suture: sagittal > unilateral coronal > bilateral coronal > metopic > lambdoid

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

Youmans Video - Video 220-1 Syndromic Craniosynostosis

These are the companion slides to the Syndromeic Craniosynostosis chapter in
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