Craniosysnostosis 2 Flashcards
Crouzon syndrome
Brachycephaly (bicoronal synostosis)
- most common
Scaphocephaly (sagittal synostosis)
Trigonocephaly (metopic synostosis)
less common
Inheritance
Autosomal dominant
Sporadic
chromosome 10q25-q26
Prevalence
16.5 per million live birth
4.8% of all cases of craniosynostosis
Development of synostosis
during 1st year, often first diagnosed 1-2 years of age
Crouzon syndrome clinical features
Midfacial hypoplasia (flattened appearance of midface )
Orbital shallowing
Hypertelorism
Antimogoloid palpebral fissures (downward slanting)
Prominent lower jaw
Hooked nose
Increased ICP
High palatal arch – mouth is often half open
Respiratory difficulties caused by airway obstruction
These patients may have associated deafness, suffer from epilepsy and/or mental retardation
Respiratory difficulties
Deafness
Epilepsy
Learning disability
Crouzon syndrome ocular features
Strabismus
V-pattern exotropia
Proptosis
spontaneous subluxation of the globe
Corneal exposure
conjunctivitis and keratitis
Amblyopia
Hypermetropia
Optic atrophy
Nystagmus
Cataract
Ectopia lentis
Glaucoma
Iris coloboma
Aniridia
Blue sclera
Micro/ megalocornea
Keratoconus (bilateral)
Crouzon syndrome further
Spontaneous sub-luxation of globe
Associated with coughing
Globe needs to be positioned
Lateral tarsorrhaphy
Craniosynostois sx
Apert syndrome causes
Both coronal sutures fuse before birth- skull is short from front to back but wide from side to side
Other sutures may also be affected either from birth or later
The facial bones are also affected- cheekbones and upper jaw do not grow in proportion to the rest of the skull, the bones around the eyes (orbits) are wider spaced and shallower than usual, causing the eyes to bulge outwards
Apert syndrome features
Symmetrical syndactyly of fingers and toes
Second up to fourth or fifth digit
Steep forehead
Midfacial hypoplasia
Orbital shallowing
Sloping palpebral fissures
Ear anomalies – ears tend to be low set
Small beaked, humped nose
High palatal arch – mouth is often half open
Cleft palate
Dental anomalies
Prominent lower jaw
Apert syndrome symptoms
the fingers and toes joined or webbed (syndactyly)
Further Apert syndrome features
↑ ICP - hydrocephalus
Respiratory difficulties
shortening of the nasopharyngeal space
Congenital heart disease
Learning disability / developmental delay
Apert syndrome inheritance
Autosomal dominant
Sporadic
Mutation in the FGFR2 gene
- is inherited as an autosomal dominant trait, however sporadic cases exist
Apert syndrome prevalance
1 per 160000 livebirth
4.5% of all cases of craniosynostosis
Apert syndrome ocular features
Esotropia or exotropia with V-pattern
Alterations/absence of EOM
Amblyopia
Anisometropia/ astigmatism
Ptosis
Hypertelorism
Mild to moderate proptosis
Corneal abnormalities e.g.
-Keratoconus
-Corneal scars / ulcers
Optic atrophy
Ectopia lentis
Congenital glaucoma
Pfeiffer syndrome features and inheritance
Features
Oxycephaly
Coronal, lambdoidal & sagittal sutures fuse before birth
Broad thumbs & great toes
Mild syndactyly of hands
Learning disability less common, may not be affected
Inheritance
Autosomal dominant
Mutation in FGFR2 and FGFR1 genes
Can be sporadic
Pfeiffer Syndrome ocular features
-OM disorder present in 70–75%
-Severe proptosis
-Exotropia more common
-A or V-pattern
Saethre-Chotzen Syndrome features and inheritance
Features
Facial asymmetry
Low set frontal hairline
Flat forehead
Ears often small, low set
Dental abnormalities 50%
Short fingers with mild syndactyly
Usually normal intelligence
-Premature fusion of coronal or lambdoid sutures
Inheritance
Autosomal dominant
Chromosome 7 p21-22
Mutation in TWIST1 gene
Saethre-Chotzen Syndrome ocular features
Ptosis
Strabismus 50%
Nasolacrimal drainage abnormalities with epiphoria 50%
Less common (25%)
-Optic atrophy
-Proptosis
Clefting syndromes
These cause disorders of the face. Abnormal development of first and second branchial arch mesoderm in early pregnancy
e.g. Treacher Collins
Goldenhar’s syndrome
Features of clefting syndromes
Cleft lip
Cleft palate
Treacher Collins Syndrome- incidence and inheritance
Incidence- approx. 1:50,000
Inheritance-
Autosomal dominant
Chromosome 5 q32-33.1
Mutation in TCOF1 gene
Treacher Collins Syndrome
Bones of the cheek
Bilateral, symmetrical hypoplasia of the zygomatic bone
Lower jaw
Hypoplasia of lower jaw → breathing and feeding problems
Receding chin
Abnormal dentition
Ears
Small & malformed ears
Middle and inner ear abnormalities - deafness
Eyes
Downward slanting palpebral fissures
Colobomas of outer 3rd of lower eyelid
Limbal/orbital dermoids
Nasolacrimal duct obstruction
Astigmatism
Goldenhar’s Syndrome inheritance
Inheritance
-Sporadic
Often unilateral
Can be bilateral & asymmetrical
Goldenhar’s Syndrome features
Malformations of external & middle ear, maxilla & muscle of mastication
Facial asymmetry
Cleft palate
Deafness
Dental defects
Vertebral fusion
Cardiac abnormalities
Renal abnormalities
Pulmonary abnormalities
Goldenhar’s Syndrome- ocular features
Orbit on affected side lower & smaller in size
Colobomas of upper eyelid
Dermoid cysts on globe or within orbit
Nasolacrimal duct obstruction
Micropthalmos
Duanes syndrome
Esotropia or exotropia
Astigmatism & amblyopia
induced by dermoid cyst
Ptosis
Many of these syndromes…
share similar ocular findings
It’s important that..
these disorders are detected early in order to initiate effective management.
Ophthalmic investigation in craniosynsostosis
VA
Orthoptic assess
Baseline refraction and fundoscopy
Visual fields if able
OPTOS fundus photography
OCT scans
EDT / VEP
Ocular anomalies
Strabismus
Strabismus is a common clinical feature of the syndrome. Exotropia more common than esotropia
Vertical strabismus
OM
Abnormal due to:
Abnormal origin of the muscles , eg. Plagiocephaly
Absence of muscles or tendons
Abnormal muscles
MRI scans shown displacement of rectus muscle pulleys (Weiss et al 2014)
V-exotropia pattern (majority)
Upshoot on ad-duction with downshoot of ab-ducting eye
Occur as a result of excyclorotated EOM and orbits
Ocular Anomalies – Visual loss
Refractive Error
Common
Astigmatism ~40%
Anisometropia
Custom designed glasses
Amblyopia
Amblyopia is the most common cause of visual impairment in this group of patients!
All types of amblyopia
May be induced by dermoids or ptosis
Initiate occlusion therapy
Ocular Anomalies further
Optic Neuropathy
with or without papilloedema
→ by chronically raised ICP or hypoxia
→ by narrowing of optic canals or stretching of optic nerves
Proptosis (exophthalmos)
→ by orbital shallowing &/or maxillary hypoplasia
Exposure keratopathy
Photophobia & corneal scarring
Incomplete closure of eye lids when asleep
Topical lubricants
Medial and lateral tarsorrhaphies
Electrodiagnostics (VEP’s)
↑ICP not always associated with optic neuropathy
VEP’s recommended as abnormal if ↑ICP
Ocular anomalies further
VEPs
↑ICP not always associated with optic neuropathy
VEP’s recommended as abnormal if ↑ICP
OCT scans – feasible and recommended in clinical surveillance (Rufai et al 2021)
Management professionals- MDT and ophthalmic team
MDTs
Paediatrician
Plastic surgeon
Neurosurgeon
ENT specialist
Paediatric nurses
Orthodontist
Audiologist
Speech therapist
Psychologist
Geneticist
Genetic counsellor
Ophthalmic team
Ophthalmologist
Optometrists
Orthoptists
Visual electrodiagnostic scientists
Managing these patients
Referred to & managed by 4 designated centres in UK
These centres carry out
Fronto-orbital advancement
Aims of surgery
Recreate the sutures & prevent them from reuniting
Enlarges space within skull
Orthoptists role for these cases
Monitor visual development carefully
Sudden visual loss
Optic neuropathy - ↑ICP
Amblyopia
Occlusion therapy
Good fit of spectacles
Refer for refraction
Assess strabismus
Presence/ absence
Change in angle over time – indication if stable
Assess OM defects
Any change over time
Associated symptoms
Aim of ophthalmological management
Observe visual development carefully
Delay strabismus surgery until after craniofacial surgery
Prior to strabismus surgery
- Orbital imaging recommended to determine any abnormal or absent EOM
