CRANIOSYNOSTOSIS – A Review

8/12/2019 CRANIOSYNOSTOSIS A Review

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Official Publication of Orofacial Chronicle , India

www.jhnps.weebly.com

REVIEW ARTICLE

CRANIOSYNOSTOSISA Review

Chintagunta Ajay kumar1, Mohammad A2. S.P. Singh3 , Anuj Bhargava4

1,2- Postgraduate Resident, Dept of Oral & Maxillofacial Surgery, NDCH, Nellore, India3- Dept. Of Neurosurgery,NMCH, Nellore, India

4- Reader, Dept of Oral & Maxillofacial Surgery, Index Institue of dental sciences, Indore, India

ABSTRACT:

Craniosynostosis is a craniofacial malformation in which one or more sutures of

the cranial vault are fused prematurely.1The deformity varies significantly

depending on the suture or sutures involved. Uncorrected craniosynostosis leads to

a continuing progression of the deformity, and in few cases, an elevation of

intracranial pressure. Recommended surgical treatment involves cranial vault

reconstruction to open the closed suture, increase intracranial volume and therebyallow the brain to grow normally. The study here is on the etiopathogenesis,

clinical manifestations and diagnosis, and surgical management of

craniosynostosis.

KEY WORDS:Craniosynostosis, intracranial pressure, sutures

Cite this article:Ajay Chintagunta K., M.D. Akheel,S.P.Singh, Anuj Bhargava:

Craniosynostosis-A review: Journal of head & neck physicians and surgeons Vol 2 Issue 1

2014: Pg 73-82


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INTRODUCTION:

CRANIOSYNOSTOSIS (sometimes called CRANIOSTENOSIS) is a disorder in

which there is early fusion of the sutures of the skull in infants. The incidence of

craniosynostosis is 1 in 2000 to 3000 births.2,6 The early fusion of cranial suturesleads morphological abnormalities such as dysmorphic cranial vault and facial

asymmetry.1The sagittal suture is the most commonly affected suture (60% of

children, next, in order, are the coronal (25%) and metopic (15%) sutures.

Lambdoid craniosynostosis is the rarest form of the disease (2% of children).6, 7

Craniosynostosis occurs as an isolated condition or as part of a syndrome. It

manifests itself in association with 130 different syndromes, but most patients are

nonsyndromic.(2, 3)

Syndromic craniosynostosis is accompanied by other body

deformities and involves multiple systems.

ETIOPATHOGENESIS:

The exact mechanism of normal fusion of cranial sutures is not known. Fusion of

cranial sutures and maintenance of patency depend on the interplay of transcription

factors, cytokines, growth factor receptors, and extracellular matrix molecules.8

Biomechanical forces and genetically determined local expression of growth

factors have been implicated in the etiology of craniosynostosis.4, 10

Although Sommering11

proposed that the calvarial suture was the primary

locus of the abnormality, Virchow12

popularized the concept. Later, Moss13

conceptualized that the cranial base was the primary locus of the abnormality in

children with craniosynostosis and that the altered cranial base transmitted the

tensile forces through the dura. This ultimately led to premature closure of the

calvarial suture. Opperman et al.5, 16-20

demonstrated that the dura initially plays an

inductive role. Later, it assumes a permissive role in maintaining sutural patency

through various signaling factors. The dura also serves as an intermediary sourceof signaling, which is mediated by transforming growth factor, fibroblast growth

factor receptor, TWIST, and MSX2. Genetic studies have now determined that

mutations within these factors are responsible for various types of

craniosynostosis.9, 24-26

Fibroblast growth factor receptors 2 and 3 mutations were

present in all patients with syndromic craniosynostosis and in 74 percent of


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children with unclassified nonsyndromic craniosynostosis.27

the specific source

generating these signals and gene amplification are not yet understood.

CLINICAL MANIFESTATIONS:

Type Head shape Clinical features

sagittal Scaphocephaly or

dolicocephaly

Frontal bossing,elongated

cranium,reduced

biparietal

diameter,reversed slope

of cranium

Coronal unilateral Unilateral plagiocephaly Flattened forehead on

affected side,flatcheeks,nose deviation to

normal sidehigher supra

orbital margin (harlequin

sign on radiographs) &

outward rotation of orbit

Coronal bilateral Brachycephaly,acrocephaly Broad,flattened fore

head,hypoplasia of

midface & progressiveproptosis,choanal

atresia,high-arched

palate,poor dental

occlusion.skull shorter in

a-p diameter,increased

biparietal diameter,visual

acuity decresed

metopic Trigonocephaly Pointed or triangular

forehead and prominent

midline ridge,lateral

supraorbital

recession,fontanelle

usually absent,


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hypertelorism

multiple oxycephaly Tower skull with shallow

orbits

Syndromic manifestations:

Syndrome Genetic type Features

Apert syndrome or

acrocephalosyndactyly

Autosomal dominant

trait

Bicoronal synostosis,

turricephaly,severe exorbitism,

midface hypoplasia,anterior

open bite,bilateral complex

syndactyly of digits &

toes,obstructive sleep apnea

Crouzon syndrome or

craniofacial dystostosis

Autosomal dominant

trait

Exorbitism, midface retrusion,

brachycephaly, box shaped face

with hypertelorism

Pffeifer syndrome Autosomal dominant

trait

Craniosynostosis,broad

thumbs,broad great toes,partially

soft tissue syndactyly of hand

Carpenter syndrome Autosomal recessive

trait

Craniosynostosis with preaxial

polysyndactyly of the feet, short

fingers with clinodactyly

&variable soft tissue syndactyly

Saethre-chotzen

syndrome

Autosomal dominant

trait

Craniosynostosis with low-set

hair line, proptosis of the upper

eyelids,facial

asymmetry,brachydactyly,partial

cutaneous syndactyly& other

skeletal anamolies


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DIAGNOSIS:

The diagnosis of craniosynostosis is based on the findings of physical examination.

Questions about developmental milestones, irritability, headaches, emesis, and

visual complaints must be investigated for a detailed history.

10

The physicalexamination, with a focus on the skull, includes palpation of the anterior and

posterior fontanelles for size, shape, position, and fullness. The symmetry of the

frontal bones and occiput is examined. The width of the biparietal diameter is

Compared with the anteroposterior length of the skull. The cranium has a specific

shape depending on which suture or sutures are closed.1,2,7,10,11

clinical examination

can reveal associated abnormalities in the digits, toes, and spine of an infant with

syndromic craniosynostosis. The diagnosis of craniosynostosis is confirmed by

findings on 3-dimensional computed tomography (CT) of the brain and skull.1,10

three-dimensional computed tomographic scans allow complete visualization of

the skull and clearly document the extent of the deformity.

SURGICAL MANAGEMENT :

Most brain growth occurs in the first year of life. The deforming vectors of the

continually growing brain result in progression of the deformity with increasing

age.

Few studies have demonstrated an increase in intracranial pressure innonsyndromic single-suture craniosynostosis

29.,.

Osseous defects following surgery undergo re-ossification more completely

before 1 year of age as compared with later.

A delay in surgery beyond the first 9 to 12 months of life leads to progressive

deformity of the cranial base, resulting in abnormal facial growth and asymmetry

of the maxilla and mandible.

The calvaria in a child 3 to 9 months of age is still malleable and, therefore, quite

easy to shape.

The management of craniofacial syndromes can be summarized as follows:

Step I: Correction of craniosynostosis between the ages of 3 and 6 months.

StepII: Correction of syndactyly between the ages of 1 and 2 years.


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Step III: Correction of midface retrusion with distraction techniques by the age of

4 to 5 years. Timing and progress of the distraction may vary, depending on the

severity of obstructive sleep apnea, malocclusion, and psychological disturbance.

Step IV: Correction of hypertelorism and turricephaly, if present, at age 4 to 6

years.This may be done in conjunction with, or separately from, step III.

Step V: Await full maturity and performLe Fort I or Le Fort III procedure in

conjunction

with mandibular osteotomy to normalize appearance and correct malocclusion.

COMPLICATIONS :

Complication Cause Recognition Prevention ManagementHemorrhage Venous sinus

hemorrhage

Scalp vessel

hemorrhage

Bone

dissection

Epidural or

subduralhematoma

Cerebral

contusion

Tears during

surgery

Decrease in

hematocrit

Unstable vital

signs

Prolonged

prothrombintime or

partial

thromboplastin

time

Hypotension

Coagulopathy

Caution when

removing

closed

suture from

dura

Packed red

blood

cells availablein

operating

room

Administer

blood

transfusion

Monitor

hematocrit

Maintain fluid

balance

Cerebrospinal

fluid leak

Torn dura Leaking

cerebrospinal

fluid

Surgical

technique

Suture dura

Meningitis or

infection

Dura torn

during

surgery

Wound

Fever

Wound

infection

Dehiscence

Surgical

technique

Administer

antibiotics in

30

min before


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breakdown start of surgery

and after

surgery

Pulmonary

edema

Reaction to

bloodtransfusion

Difficulties in

ventilation

Assessment of

ventilatoryparameters

Arterial blood

gas

analysis

Manage

airwaypressure

Use oscillator

Air embolism Osteotomies Decrease in

oxygen

saturation

Increase inend-tidal

carbon dioxide

Bone wax

Positioning

Assess vital

signs and

hypotension

Arterial bloodgases

CONCLUSION :

Treatment of craniosynostosis is utmost important to proper neurodevelopement &

esthetics of child and challenging to establish a trusting relationship with parentsand providing care that parents acknowledge as compassionate and competent are

important.

REFERENCES:

1. Ursitti F, Fadda T, Pipetti L, et al. Evaluation and management of nonsyndromiccraniosynostosis.Acta Paediatr. 2011;100(9):1185-1194.

2. McCarthy JG, Warren SM, Bernstein J, et al; Craniosynostosis Working Group. Parameters ofcare for craniosynostosis. Cleft Palate Craniofac J.2012;49(suppl):1S-24S.

3. Robin NH, Falk MJ, Haldeman-Englert CR. FGFR-related craniosynostosissyndromes.

Gene Rev.http://www.ncbi.nlm.nih.gov/books/NBK1455/. Published October 20, 1998. Lastupdated June 7, 2011. Accessed April 23, 2013.

4. Cohen, M. M. Sutural pathology. In M. M. Cohen, Jr., and R. E. MacLean (Eds.),

Craniosynostosis: Diagnosis,Evaluation and Management, 2nd Ed. New York: OxfordUniversity Press, 2000. Pp. 5168
http://www.ncbi.nlm.nih.gov/books/NBK1455/http://www.ncbi.nlm.nih.gov/books/NBK1455/http://www.ncbi.nlm.nih.gov/books/NBK1455/http://www.ncbi.nlm.nih.gov/books/NBK1455/


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5. Opperman, L. A., Nolen, A. A., and Ogle, R. C. TGFbeta 1, TGF-beta 2 and TGF-beta 3

exhibit distinct patterns of expression during cranial suture formation and obliteration in vivoand in vitro.J. Bone Miner.Res. 12: 301, 1997.

6. Kanev P. Congenital malformations of the skull and meninges. Otolaryngol Clin North Am.2007;40(1):9-26, v.

7. Slater BJ, Lenton KA, Kwan MD, Gupta DM, Wan DC, Longaker MT. Cranial sutures: a briefreview.Plast Reconstr Surg. 2008;121(4):170e-178e.

8. Morris-Kay GM, Wilkie AO. Growth of the normal skull vault and its alteration in

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9. Wilkie, A. O. Craniosynostosis: Genes and mechanisms.Hum. Mol. Genet. 6: 1647: 1997.

10. Williams, J. K., Ellenbogen, R. G., and Gruss, J. S. State of the art in craniofacial surgery:Nonsyndromic craniosynostosis. Cleft Palate Craniofac. J. 36: 471, 1999.

11. Sommering, S. T. Von Baue des Menschlichen Korpers, 2nd

Ed. Leipzig: Voss, 1839.

12. Virchow, R. Uber den Cretinismus, namentlich in Franken, and uber pathologische

Schadelformen. Verh.Phys. Med. Gesellsch. Wurzburg 2: 230, 1851.

13. Moss, M. L. The pathogenesis of premature cranial synostosis in man. Acta Anat. (Basel) 37:351, 1959.

14. Babler, W. J., Persing, J. A., Persson, K. M., et al. Skull growth after coronal suturectomy,

periosteotomy and dural transection.J. Neurosurg. 56: 529, 1982.

15. Eaton, A., Cheverud, J., and Mars, J. The effect of artificial calvarial modification onendocranial base morphology. Winner, Plastic Surgery Educational Foundation Essay

Competition, 1997.

16. Opperman, L. A., Sweeney, T. M., Redmon, J., Persing, J. A., and Ogle, R. C. Tissueinteractions with underlying dura mater inhibit osseous obliteration of developing cranial sutures.

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17. Opperman, L. A., Persing, J. A., Sheen, R., and Ogle, R. C. In the absence of periosteum,

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23. Mooney, M. P., Burrows, A. M., Smith, T. D., et al. Correction of coronal suture synostosisusing suture and dura mater allografts in rabbits with familial craniosynostosis. Cleft Palate

Craniofac. J. 38: 206, 2001.

24. Wilkie, A. O., Slaney, S. F., Oldridge, M., et al. Apert syndrome results from localizedmutations of FGFR2 and is allelic with Crouzon syndrome.Nat. Genet. 9: 165, 1995.

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27. Aldridge, K., Marsh, J., Peryln, C., and Richtsmeier, J. Quantification of central nervous

system dysmorphology in isolated craniosynostosis. Presented at the 58thAnnual Meeting of the

American Cleft Palate-Craniofacial Association, Minneapolis, Minn., April 26, 2001

28. Lo, L. J., Marsh, J. L., Kane, A. A., and Vannier, M. W. Orbital dysmorphology in unilateral

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Acknowledgments- Nil

Conflict of Interest-Nil


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Support-Nil

Correspondence Addresses :

Ajay Chintagunta kumar

Guntur distri ct

Andhr a Pradesh, I ndiaEmail :[email protected]
mailto:[email protected]:[email protected]:[email protected]:[email protected]

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CRANIOSYNOSTOSIS – A Review