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
