Cranial Facial Syndromes

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Cranial facial Syndromes

  • Crouzon/ apert/ Pfeiffer
  • Treacher Collin syndrome
  • Pierre Robin Syndrome
  • Stickler syndrome
  • Goldenhar syndrome

 

1st branchial arch

  • Precursor of maxilla and mandible
  • Muscles/ nerves  of mastication (V)
  • Ear formation

 

1st branchial arch defects

  • Crouzon syndrome/ apert syndrome
  • Treacher Collins syndrome

2nd Branchial arch

  • Ear formation
  • Muscles/nerves  of facial expression

 

1st + 2nd Branchial arch defects

  • Goldenhar Syndrome

 

 

TREACHER COLLINS SYNDROME

absent cheek bone’

 

  • Similar to Crouzon/apert syndrome (no exophthalmos)
  • AD inheritance
  • Intelligence normal
  • +/- facial nerve affected

 

General

  • Looks well

Around Bedside

  • Hearing aids/glasses

Dysmorphic features

  • PROMINENT FEATURES

Head

  • +/- brachcephaly

Eyes

  • Down-slanting palpebral fissures
  • Drooping of the lateral lower eyelid
  • Squints
  • Coloboma/ aplasia of lower lid lashes
  • +/- hypertelorism

Ears

  • Low set / malformed/absent ears/ preauricular  sinuses
  • Hearing problems

Face

  • Micrognathia
  • Hypoplastic maxilla

Mouth

  • Lip/ Cleft palate

Neck

  • +/- tracheostomy
  • Scar

Limbs

  • Fusion of radius + ulnar

 

To complete my examination

  • Plot height/weight/ head circumference
  • Cranial nerve examination  (VII)
  • Respiratory/ ENT examination – OSA/airway problems (tracheostomy)
  • CVS – VSD
  • Formal hearing assessment

 

 

 

 

GOLDENHAUR SYNDROME

Mode of inheritance not known

1st and 2nd Branchial arch defects

General

  • Well

Around bedside

  • Hearing aids/glasses

Dysmorphic features

  • PROMINENT FEATURES: facial asymmetry + hemi-facial microsomia

Head

  • Frontal bossing

Eyes

  • Epibulbar dermoid
  • Coloboma

Ears

  • Low set ears/ +/- abnormal position (angle of mandible)
  • Malformation/abnormal outer ear
  • Hearing problems

Nose

  • Poorly developed nostrils

Face

  • Asymmetry of the face +/- hemi facial microsomia

Mouth

  • Lip/cleft palate

Neck

  • Short neck (Fused verbebrae)

 

Associated with renal and cardiac abnormalities

Associated with vertebral anomalies (synostosis, spina bifida, hemi-vertebrae)

+/- Mental retardation

To complete my examination

  • Plot head circumference/ height/ weight
  • CVS/ renal examination
  • Formal hearing assessment

 

Causes of Micrognathia

  1. Treacher Collin syndrome
  2. Craniosynostosis
  3. Pierre Robin Syndrome
    • High arched palate/ cleft palate
    • Micrognathia
    • Posterior displacement of the tongue
    • Respiratory obstruction (position of tongue/ small mandible)
  4. Stickler Syndrome
    • Pierre Robin Syndrome
    • Severe myopia + cataract
    • Deafness
  1. Cornelia de Lange syndrome (?)
    • Brushy eye brow/ low hair line/ hypertrichosis on the limbs/trunk
    •  Low set ears
    • Micrognathia
    • Limb defects: micromelia (small hands/feet)/ phocomelia
    • CVS: ASD, VSD
    • Mental retardation
  1. Russell Silver syndrome
  2. Noonan/turner’s syndrome

 

Eye (Coloboma/dermoids)

  1. Treacher Collin Syndrome (AD)
    •  Coloboma
  1. Goldenhar syndrome (?)
    • Coloboma
    • Epibulbar dermoids
  1. CHARGE (?)
  •  Coloboma
  • heart defect,
  • choanal atresia,
  • atresia of growth/mental retardation,
  • genitourinary + ear abnormalities
  1. Wardenburg (AD)
    • Heterchromia iridis
    • Pigmented changes in skin + hair (white forelock)
    • Sensorineural deafness

Author – Elizabeth Stockley

One comment on “Cranial Facial Syndromes
  1. iqbal says:

    excellent

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