Craniosynostosis
- Premature
fusion of the cranial sutures
- Frequently
referred by pediatrician who notes abnormal shape of head during growth
- Rarely
causes brain damage during development unless multiple sutures are
simultaneously involved
- Diagnosis:
- Feel for
ridges at suture lines
- Skull
films
- Uncontrasted
head CT to r/o associated brain malformations and hydrocephalus
- CT with
3D reconstruction for craniofacial reconstructions
- Timing of
normal suture fusion:
- Metopic
prior to birth
- Posterior
fontanelle 3 months
- Anterior
fontanelle 18 months
- Types:
- Sagittal most common; M>F;
scaphocephaly and dolicocephaly
- Unilateral
coronal
F>M; anterior plagiocephaly
- flattening
of frontal bone and superior orbital rim
- Bilateral
coronal
brachycephaly
- Unilateral
lambdoid
M>F; posterior plagiocephaly
- occipital
flattening and/or ipsilateral prominent forehead
- Metopic trigonencephaly
- Narrow,
shortened forehead with midline ridge, hypertelorism
- Bilateral
coronal and sphenofrontal turricephaly
- Multiple oxycephaly (cone shaped
head)
- Multiple
sutures involved with varied results
- Can
lead to increased ICP and abnormalities of brain development
- Scaphocephaly sagittal suture
- Plagiocephaly half of coronal suture
- Brachycephaly both coronal and lambdoid
- Trigonocephaly metopic synostosis (10-16%)
- Treatment:
- Surgical
removal of fused suture
- Optimal
time is between 4-12 months of age
- Some
forms require simultaneous craniofacial reconstruction
- Usually performed
in conjunction with Plastic Surgery
- Syndromic
craniosynostosis
- Crouzon (Craniofacial Dysostosis)
most common
- autosomal
dominant
- Brachycephaly
from premature synostosis of coronal and sagittal sutures, shallow
orbits with exophthalmos, maxillary hypoplasia with predominant jaw.
- Autosomal
dominant inheritance with complete penetranceshallow orbit,
exophthalmos, sphenoid and frontal synostosis
- midface
hypoplasia, malformed ears, agenesis of corpus callosum, hydrocephalus
more common than mental retardation,
oxycephaly/turricephaly/dolicocephaly
- Apert (Acrocephalosyndactyly Type
I) autosomal dominant
- mental
retardation more common than hydrocephalus
- maxillary
hypoplasia, hypotelorism, syndactyly, flat nose, deafness
- fronal
cephaloceles; associated with vertebral, skeletal, GI, GU, cardiac
abnormalities
- Coronal
synostosis, brachycephaly with flat occiput, large fontanelles,
midfacial hypoplasia, ocular hypertelorism, and syndactyly of hands/feet
- Common
to both:
- Autosomal
dominant
- Exorbitum
and midface deformity
- Proptosis,
hypertelorism, hearing loss
- Optic
atrophy, seizures
- Characteristics
unique to Crouzons:
- Multiple
synostosis
- Agenesis
of corpus callosum
- Normal
IQ
- Characteristics
unique to Aperts:
- Coronal
suture only
- Anterior
open bite
- GI/GU/cardiac
abnormalities
- Mental
retardation
- Deafness
- Cleft
palate
- Syndactyly
- Frontal
encephalocele
- Normal
corpus callosum