Craniosynostosis

Aka: Craniosynostosis, Trigonocephaly, Metopic Synostosis, Brachycephaly, Bicoronal Synostosis, Frontal Plagiocephaly, Unilateral Coronal Synostosis, Occipital Plagiocephaly, Synostotic Plagiocephaly, Scaphocephaly, Sagittal Synostosis, Cranial Suture Premature Closure

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II. Definition

  1. Premature fusion of cranial Sutures
  2. Growth restriction perpendicular to fused Suture
  3. Compensatory skull overgrowth in unrestricted areas
  4. Images
    1. NicuNormalSutures.jpg

III. Epidemiology

  1. Incidence: 0.4 per 1000 live births
  2. Sagittal Suture is most commonly affected

IV. Causes

  1. Idiopathic
  2. Hyperthyroidism
  3. Rickets
  4. Hyperparathyroidism
  5. Underlying genetic disorder
    1. Apert's Syndrome
    2. Crouzon's Syndrome
    3. Pfeiffer's Syndrome

V. Risk Factors

  1. Caucasian mother
  2. Advanced maternal age
  3. Male infant
  4. Maternal Tobacco Abuse
  5. Mother living at high altitude
  6. Fertility treatments
  7. Paternal occupation in agriculture, forestry, mechanics
  8. Maternal exposure to nitrosatables
    1. Nitrofurantoin
    2. Chlorpheniramine

VI. Evaluation

  1. Observe head shape for abnormality
    1. Asymmetry
    2. Elongated, broad, or triangular shape
    3. Ridging at Suture lines beyond first week of life
  2. Check Head Circumference
    1. Evaluate for Hydrocephalus and Microcephaly
  3. Evaluate for other musculoskeletal abnormalities
    1. Spine, fingers, and toe abnormalities

VII. Metopic Synostosis (Trigonocephaly)

  1. Images
    1. NicuTrigonocephaly.jpg
  2. Pathophysiology
    1. Metopic Suture (sagittal plane of forehead) closure
  3. Characteristics
    1. Forehead elongates
      1. Anteroposterior distance increases
    2. Forehead less rounded and more pointed
    3. Ridge forms down center of frontal forehead
    4. Eyes appear closer together
    5. Eyebrows appear pinched
  4. Management
    1. Surgery to increase anterior cranial volume

VIII. Bicoronal Synostosis (Brachycephaly)

  1. Images
    1. NicuBrachycephaly.jpg
  2. Pathophysiology
    1. Coronal Suture closure
      1. Anterior to Parietal Bones (Passes between ears)
    2. Metopic Suture may also be affected
  3. Characteristics
    1. Skull widens and becomes nearly circular in shape
    2. Forehead flattens
  4. Associated Conditions
    1. Crouzon's Syndrome
    2. Apert's Syndrome
  5. Management
    1. Surgery to increase anteroposterior length

IX. Unilateral Coronal Synostosis (Frontal Plagiocephaly)

  1. Images
    1. NicuPlagiocephaly.jpg
  2. Pathophysiology
    1. Unilateral coronal Suture closure
  3. Characteristics
    1. Asymmetric flattening of affected side of forehead
      1. Eyebrow appears to wink (flat on affected side)
      2. More evident by looking at child in mirror
    2. Forehead elongates
      1. Anteroposterior distance increases
    3. Forehead less rounded and more pointed
  4. Differential Diagnosis
    1. Similar to Trigonocephaly but asymmetric

X. Occipital Plagiocephaly (Unilambdoid Synostosis)

  1. Images
    1. NicuPositionalHeadDeformity.jpg
  2. Pathophysiology
    1. Unilateral lambdoid Suture closure
    2. Lamboid Suture sits behind Posterior Fontanelle
  3. Characteristics
    1. Asymmetric flattening of affected side of occiput
    2. Similar to Frontal Plagiocephaly but affects occiput
    3. Occiput may appear more pointed
  4. Differential Diagnosis
    1. Positional Head Deformity may give similar appearance

XI. Sagittal Synostosis (Scaphocephaly)

  1. Images
    1. NicuScaphocephaly.jpg
  2. Epidemiology
    1. Most common Craniosynostosis form (1 in 4200 births)
    2. More common in boys (3x)
  3. Pathophysiology
    1. Sagittal Suture (between Parietal Bones) closure
  4. Characteristics
    1. Skull elongates to become long and narrow
  5. Management
    1. Strip craniectomy (now performed via endoscopy) or
    2. Cranial vault remodeling

XII. Imaging

  1. Skull films (Anteroposterior and lateral views)
    1. Signs of Suture fusion
      1. Bone bridging over Suture
      2. Indistinct Suture
      3. Suture margin sclerosis
    2. Signs of Increased Intracranial Pressure
      1. Cortical thinning
      2. Suture widening
      3. Thumbprinting
  2. Cranial Ultrasound (if Anterior Fontanelle open)
    1. Signs of Increased Intracranial Pressure
      1. Ventricular dilatation
    2. May also be effective in Lambdoid Suture evaluation
      1. Sze (2003) Pediatr Radiol 33(9):630-6 [PubMed]
  3. CT with 3D Reconstruction or MRI Brain
    1. Sutures more accurately defined that plain XRay
    2. Evaluate for coexisting intracranial abnormalities
      1. Hydrocephalus
      2. Corpus callosum agenesis

XIII. Complications: Untreated Craniosynostosis

  1. Increased Intracranial Pressure
  2. Facial asymmetry
  3. Malocclusion
  4. Orbit asymmetry (associated with Strabismus)

XIV. Management

  1. Identify and refer for surgery at earliest possible age

XV. References

  1. Aviv (2002) Clin Radiol 57:93-102 [PubMed]
  2. Kabbani (2004) Am Fam Physician 69:2863-70 [PubMed]
  3. McIntyre (1997) Am Fam Physician 55(4):1173-8 [PubMed]
  4. Ridgway (2004) Pediatr Clin North Am 51(2) [PubMed]

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Related Studies

Ontology: Craniosynostosis (C0010278)

Definition (MSH) Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS.
Definition (MSHCZE) Předčasný uzávěr a osifikace lebečních švů. Vede k zmenšení prostoru pro rozvíjející se mozek (kraniostenóze). Postižen je jeden nebo více švů, při nerovnoměrném srůstu dochází k deformitám lebky. (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ )
Definition (NCI) A congenital disorder characterized by earlier than normal closure of some or all sutures of the infant skull.
Definition (CSP) premature closure of one or more sutures of the skull.
Concepts Disease or Syndrome (T047) , Congenital Abnormality (T019)
MSH D003398
ICD10 Q75.0
SnomedCT 205414007, 205411004, 57219006
English Craniosynostoses, Premat.cranial suture closure, CRS1, CRANIOSTENOSIS, synostosis (cranial), craniosynostosis, craniosynostosis (diagnosis), Craniosynostoses [Disease/Finding], Plagiocephaly, Craniosynostosis, Craniosynostosis Plagiocephalies, Synostotic Plagiocephalies, Plagiocephalies, Craniosynostosis, Craniostenosis, Plagiocephalies, Synostotic, Plagiocephaly, Synostotic, Craniostenoses, Synostotic Plagiocephaly, Craniosynostosis Plagiocephaly, craniosynostoses, cranial synostosis, craniosynostosis syndromes, craniostosis, Craniosynostosis, Type 1, Craniosynostosis (disorder), CRS, CRANIOSYNOSTOSIS 1, Craniosynostosis Syndrome, Craniostosis, Congenital ossification of cranial sutures, Congenital ossification of sutures of skull, Craniosynostosis syndrome, Premature closure of cranial sutures, Premature cranial suture closure, CSO - Craniosynostosis, Craniosynostosis syndrome (disorder), craniostenosis, Craniosynostosis
Italian Chiusura precoce delle suture craniche, Craniosinostosi
Japanese 頭蓋縫合部早期閉鎖, 頭蓋癒合(ズガイユゴウ), 頭蓋骨縫合早期骨化, 塔状頭蓋, 塔状頭蓋症, 頭蓋狭窄(ズガイキョウサク), 頭蓋骨癒合症(ズガイコツユゴウショウ), 頭蓋骨縫合早期癒合症, 塔状頭症, 狭頭症, 頭蓋狭窄, 頭蓋縫合早期骨化(ズガイホウゴウソウキコツカ), 尖頭蓋, 頭蓋縫合早期骨化, 頭蓋癒合症, 塔状頭, 尖頭症, 頭蓋縫合早期癒合症, 頭蓋骨縫合早期骨化(ズガイコツホウゴウソウキコツカ), 尖頭, 尖頭蓋症, 頭蓋狭窄症(ズガイキョウサクショウ), 頭蓋癒合症(ズガイユゴウショウ), 頭蓋狭窄症, 頭蓋癒合, 頭蓋骨癒合症, 狭小頭症, ﾄｳｶﾞｲﾎｳｺﾞｳﾌﾞｿｳｷﾍｲｻ, ﾄｳｶﾞｲｺﾂﾕｺﾞｳｼｮｳ
Swedish Kraniosynostoser
Czech skafocefalie, kraniosynostózy, Kraniosynostóza, Předčasné uzavření lebečních švů
Finnish Kraniosynostoosit
Russian KRANIOSINOSTOZY, AKROTSEFALIIA, OKSITSEFALIIA, CHEREP BASHENNYI, PIRGOTSEFALIIA, АКРОЦЕФАЛИЯ, КРАНИОСИНОСТОЗЫ, ОКСИЦЕФАЛИЯ, ПИРГОЦЕФАЛИЯ, ЧЕРЕП БАШЕННЫЙ
German Kraniosynostose, Fruehzeitiger Kalottenschluss, Kraniosynostosis, Kraniosynostosen
Korean 머리뼈붙음증
Croatian Not Translated[Craniosynostoses]
Portuguese Craniossinostoses, Craniossinostose, Craniosinostose, Cicatrização prematura de suturas cranianas
Polish Stożkogłowie, Zrost szwów czaszkowych przedwczesny, Kraniostenoza, Przedwczesne zarośnięcie szwów czaszkowych, Kraniosynostoza
Hungarian Koponyavarratok korai záródása, Craniosynostosis
Norwegian Kraniesynostoser, Kraniosynostoser
French Craniosténoses, Craniosynostoses, Plagiocéphalie synostotique, Craniosynostose, Fermeture prématurée des fontanelles
Spanish cierre prematuro de las suturas craneanas, craneoestenosis, craneosinostosis, osificación congénita de las suturas craneales, osificación congénita de las suturas del cráneo, síndrome de craneosinostosis (trastorno), síndrome de craneosinostosis, Cierre prematuro de las suturas craneales, Craneosinostosis
Dutch craniosynostose, premature sluiting van schedelnaden, Craniosynostose, Synostose, cranio-
Derived from the NIH UMLS (Unified Medical Language System)

Ontology: Brachycephaly (C0221356)

Definition (MSH) Premature closing of both sides of the coronal sutures.
Concepts Congenital Abnormality (T019) , Disease or Syndrome (T047)
MSH D003398
SnomedCT 13649004
English Short ant-post diameter skull, Brachycephaly, Brachycephalies, brachycephaly, Short broad skull, Wide skull, Short anteroposterior diameter of skull, Brachycephaly (disorder)
Japanese 短頭, ﾀﾝﾄｳ
Czech Brachycefalie, brachycefalus
Hungarian Brachycephalia
French Synostose coronale bilatérale, Brachycéphalie
Italian Brachicefalia
Spanish braquicefalia (trastorno), braquicefalia, Braquicefalia
Portuguese Braquicefalia
Dutch brachycefalie
German Brachyzephalie
Derived from the NIH UMLS (Unified Medical Language System)

Ontology: Scaphycephaly (C0265534)

Definition (MSH) Premature fusion of the sagittal suture.
Concepts Congenital Abnormality (T019)
MSH D003398
SnomedCT 248376002, 205411004, 4191007
Japanese 舟状頭蓋症, ｼｭｳｼﾞｮｳﾄｳｶﾞｲｼｮｳ
Czech Skafocefalie
English Scaphocephalies, Sagittal Synostoses, Synostoses, Sagittal, Scaphocephaly, Synostosis, Sagittal, Sagittal Synostosis, scaphocephaly, sagittal synostosis, Scaphycephaly (finding), Scephocephaly, Sagittal synostosis, Scaphycephaly (disorder), Scaphycephaly, Scaphoid head
Hungarian Scaphocephalia
French Scaphocéphalie, Synostose sagittale
Italian Sinostosi sagittale, Scafocefalia
Spanish escafocefalia (trastorno), escafocefalia, sinostosis sagital, Escafocefalia
Portuguese Scafocefalia
Dutch scafocefalie
German Skaphozephalie
Derived from the NIH UMLS (Unified Medical Language System)

Ontology: Trigonocephaly (C0265535)

Definition (MSH) Premature fusion of the metopic suture.
Concepts Congenital Abnormality (T019)
MSH D003398
ICD10 Q75.0
SnomedCT 28740008
English Trigonocephaly, Synostosis, Metopic, Trigonocephalies, Synostoses, Metopic, Metopic Synostosis, Metopic Synostoses, trigonocephaly, trigonocephalus, Triangular skull, Trigonocephalia, Trigonocephalus, Trigonocephaly (disorder)
Norwegian Trigonocefali
French Trigonocéphalie, Synostose métopique
Italian Trigonocefalia, Sinostosi metopica
Spanish cráneo triangular, trigonocefalia (trastorno), trigonocefalia, trigonocéfalo
Derived from the NIH UMLS (Unified Medical Language System)

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