CRANIOSYNOSTOSIS

1. CRANIOSYNOSTOSIS
PRESENTER
DR. BASAVARAJ.M.M
1ST YEAR RESIDENT
UNDER THE GUIDANCE
DR. ASHOK A
ASSOCIATE PROFESSOR
DEPT OF PEDIATRICS

2. CRANIOSYNOSTOSIS

3. • Definition
• Cranial anatomy
• Etiology and classification
• Craniosynostosis syndrome
• Diagnosis and Treatment

4. • DEFINITION: The process of premature closing of suture causing
problems with normal brain and skull development.
• Craniosynostosis are frequently associated with impaired central
nervous system function due to
1) raised ICT, 2)Hydrocephalus, 3) Brain anomalies.
• Incidence: 3.4 per 10,000 births
• Males – sagittal and metopic synostosis
• Female- coronal
• In general : MC-sagittal synostosis, 2nd MC- coronal

5. CRANIAL ANATOMY
• Normal infant skull is flexible.
• 4 Suture, 4 fontanalle.
Langman’s Medical Embryology

6. TIMING OF CLOSURE OF SUTURES AND
FONTANELLES
SUTURES AND FONTANELLES
1. Metopic suture
2. Coronal, saggital, lambdoid
3. Anterior fontanelle
4. Posterior fontanelle
5. Mastoid fontanelle
6. Sphenoid fontanelle
TIMING OF CLOSER
- 9 months-2 yrs
- 40 years
- 18 - 24 months
- 3 – 6 months
- 1 yr
- 2 – 3 months

7. ETIOLOGY:
• Exact etiology unknown
• Sporadic most cases
• Risk factors-Advanced maternal age
Maternal smoking
Male sex
Fertility treatment.. Etc
Hypothesis – it suggest that abnormal development of the base of
the skull creates exaggerated forces on the dura that act to disrupt
normal suture development. ( Moss’s theory)

8. CLASSIFICATION OF CRANIOSYNOSTOSIS
Genetic classification
• Isolated- unknown, uterine constraint, FGFR3 mutation.
• Syndromic cs- FGFR1- Pfeiffer syndrome
FGFR2- Apert’s syndrome, Crouzons syndrome
TWIST- Saethre chotzen syndrome.

9. PRIMARY VS SECONDARY
• Primary
a. Primary defect of ossification
b. Head asymmetric
c. Brain continue to grow in
areas where sutures are open
d. Most individuals normal
neurologically
e. Surgical good prognosis
Ex: simple –coronal,sagittal..
compound- syndromic
• Secondary
a. Secondary to brain
malformation
b. Head symetric
c. Growth of brain impaired
d. Neurologically abnormal
e. No benefit from surgery
Ex: malformation-microcephaly,
holoprocencephaly

10. TYPES OF CRANIOSYNOSTOSIS

11. A) sagittal suture
• SCAPHOCEPHALY / DOLICHOCEPHALY
- Most common type
- Features- broad forehead
prominent occiput
small/absent AF
biparietal narrowing
ridging of the sagittal suture
- Sporadic –MC in male
- Not produce – raised ICT/hydrocephalus
- Labour- CPD

12. Saggital craniosynostasis
Clinical photograph-Lateral and Superior view of a child with sagittal
craniosynostosis demonstrating frontal and occipital bossing.

13. B) CORONAL SUTURE
• ANTERIOR / FRONTAL PLAGIOCEPHALY
- 2ND MC (18%)
- Associated with Apert syndrome
- U/L flattening: Plagiocephaly
- B/L flattening: Brachycephaly.
- Mc-female

14. Unilateral coronal synostosis
• Prematurely fused one coronal suture,
• Flattening of the ipsilateral frontal and parietal bones
• Bulging of the contralateral frontal and parietal bones
• Bulging of the ipsilateral squamous portion of the temporal bone,
• Ipsilateral ear displaced anteriorly compared with the
contralateral ear
• Radiographic findings include the “harlequin” orbit deformity
(elevation of supra orbital margin )due to elevation of the greater
and lesser wings of the sphenoid

15. Bilateral coronal synostosis
1 Fused bilateral coronal suture.
2 Recessed superior orbital rim.
3 Prominent frontal bone.
4 Flattening of occiput
5 Anteriorly displaced skull vertex.
6 Shortened anterior cranial fossa.
7 Harlequin deformity of greater wing of sphenoid.
8 Protrusion of squamous portion of temporal bone

16. C) LAMBDOID SUTURES
- Occipital plagiocephaly
- 10-20% of cso
- M:f-4:1
- U/L- posterior plagiocephaly
- Right side mc
- Flat occiput
- Ipsilateral forehead bulge(rhomboid skull)
- B/L- posterior brachycephaly
Brachycephaly with b/l antero inferior displaced ear.

17. D) METOPIC SUTURE
- Trigonocephaly
- Incidence- 4-10%, M>F
- Ch19p abnormality
- Pointed fore head and midline ridge
hypotelorism
Ridging of metopic suture. 2, Temporal narrowing. 3, Patent
coronal suture displaced anteriorly. 4, Compensatory bulging of
the parieto-occipital region. 5, Narrowed bizygomatic
dimension. 6, Posterior displacement of the superolateral
orbital rim.

18. • D) MIXED TYPE
1.TURRICEPHALY: coronal+sagittal
- Tower like tall pointed skull
- Leads to acrocephaly/oxycephaly
- No room for brain growth
- ICT –needs shunting hydrocephalus

19. 2. CLOVER LEAF
- Multiple suture involved
- Also called Kleeblattschadel deformity.
- Three bulges-two temporal and top
- Pronounced constrictions in both sylvian
fissures

20. CRANIOSYNOSTOSIS SYNDROME
• Crouzon’s syndrome
- Inherited as autosomal dominant trait
- Pattern- B/L closer of coronal
- Mutation of gene coding FGFR2, FGFR3
- C/F- Brachycephaly
significant hypertelorism, proptosis,
maxillary hypoplasia, beaked nose

21. Apert’s syndrome
• Crouzon’s with Hand Involvement
• 1 in 100,000 to 160,000 live births, mutation FGFR2
• Varying intellect (50 % with MR)
• Cervical vertebral anomalies
• Syndactaly-2,3,4 finger
• multiple suture involve

23. Pfeiffer’s syndrome
• AD Inheritance
• Clover leaf skull in 20%
• Intelligence is reported to be normal
• C/F: eyes prominent & wide spaced
broad thumbs & great toes and are short.
• Mutation of gene coding for FGFR1, FGFR

24. Carpenter’s syndrome
• Autosomal recessive.
• Syndactyly of feet
• Intellectual disability is common
• Sagittal and lambdoid suture closes first
coronal last
• Cardiac abnormalities, corneal opacities.

25. Consequence of craniosynostosis
• Intracranial hypertension
Neurologic symptoms of elevated ICP
( Headaches, vomiting, sleep disturbances, feeding difficulties, behavioral changes, and diminished
cognitive function).
• Hydrocephalus- 4% to 18% .(Communicating)
multiple-suture craniosynostosis >> nonsyndromic single suture craniosynostosis
• Ophthalmologic Effects
Papilloedema, optic nerve atrophy, and even loss of vision may occur with prolonged,
untreated elevated ICP.

26. DIAGNOSIS
• (A)Detailed history
• (B)Clinical examination
• (C)Radiological evaluation

27. • Diagnosis
(A) Detailed history
• Birth history , sleeping position.
• Head tilt , torticollis (deformational plagiocephaly)
• Delayed developmental mile stone
• family history abnormal head shape or multiple systemic problems
(eg,cardiac, genitourinary, musculoskeletal)

28. (B)Clinical Examination
• HC(micro/macrocephaly),
• Head shape (from above, side)
• Palpate suture lines & fontanelles (Look for ridging)
• Ear and facial symmetry, neck, spine, digits, and toes
• Look for associated anomalies (cvs, genitourinary, musculoskeletal)
• Fundus examination

29. (C) Radiological Evaluation
• Plain radiography-AP and lateral views of the skull -bony bridging
across the suture ,sclerosis, straightening and narrowing of the suture
and loss of suture clarity
• CT scan Head -more accurate . structural abnormalities (e.g.,
hydrocephalus, agenesis of the corpus callosum).
• 3D CT scanning accurately delineate the craniofacial deformity and
plan surgical reconstruction.

30. Treatment
• Primary objectives in nonsyndromic craniosynostosis are release of
the involved (fused) suture and reconstruction of all dysmorphic
skeletal components
• Most popular procedures –
Wide-strip craniectomy with bilateral wedge parietal craniectomy,
extended vertex craniectomy,

31. Timing of surgery
Early operation(3-6 months) Better compliance of brain ,dura and scalp
Calvarium is much more malleable, easier to shape and providing a
better outcome
Rapid brain growth reshape the bone

32. REFERENCES
• Nelson Textbook of pediatrics –south asia edition
• Swaiman’s Pediatric Neurology- Principles and practice
• Langman’s Medical Embryology
• Menkes textbook of child neurology
• http://aiimsnets.org/NeurosurgeryEducation/NeurosurgicalSpecialties/Pediatric/Cranisynostosis
• http://www.pediatricneurosciences.com/article.