5 - Paediatrics Flashcards
Velocardiofacial Syndrome
- Epidemiology
- 1:4000 -7000
- No racial or gender predilection
- Genetics
- Deletion on Chromosome 22q11.2
- 90% new mutation
- 10% inherited
- Autosomal dominant
- Autosomal dominant
- Deletion on Chromosome 22q11.2
- Presentation
- Varied presentation
Affect branchial arches from I - IV - Arch I
- Hypertelorism
- Midface hypoplasia
- Short philtrum
- Velopharyngeal insufficiency
- Micrognathia & Retrognathia
- Cleft palate
- Low set, malformed or absent ears
- Hearing loss
- Arch II
- Arch III
- Parathyroid problems - Hypocalcemia
- Cardiac & Great vessel anomalies
- Tetralogy of Fallot
- VSD
- Pulmonary valve stenosis
- Overriding aorta
- RV hypertrophy
- Aortic arch defects
- Pulmonary artery atresia
- Tetralogy of Fallot
- Thymus
- Impaired T cell maturation
- Increased likelihood of Autoimmune conditions
- Arch IV
- Cardiac & Great vessel anomalies
- Tetralogy of Fallot
- VSD
- Pulmonary valve stenosis
- Overriding aorta
- RV hypertrophy
- Aortic arch defects
- Pulmonary artery atresia
- Tetralogy of Fallot
- Cardiac & Great vessel anomalies
- Neurological
- Developmentally delayed
- ADHD, Bipolar, Schizophrenia
- Seizures
- Extra-cranial
- Genitourinary
- Renal
- Respiratory
- Varied presentation
Suture and Fontanelle Closure Time
- Posterior Fontanelle: 3-6 months
- Anterior Fontanelle: 9-12 months
- Sphenoid Fontanelle: 6 months
- Mastoid Fontanelle: 6 - 18 months
- Metopic Suture: 3 - 9 months
Craniosynostosis
Craniosynostosis - premature fusion of sutures
Craniofacial dysostosis - Describes the syndromic forms of craniofacial synostosis
Involves not only cranial vault but also skull base and midface skeletons
Craniosynostosis - 1:2000 -4000
Sagittal most common, Lambdoid is rarest
Fontanelle closure - Posterior 3-6 months, Anterior 9-12 months
Virchow’s Law
- Growth parallel to the fused suture
- Sagittal Craniosynostosis
- Most common non syndromic single suture craniosynostosis - 50%
- Scaphocephaly
- Presentation
- Frontal bossing
- AP elongation, Transverse narrowing
- Rarely associated with raised intracranial pressure
- Unicoronal Craniosynostosis
- Second most common non syndromic craniosynostosis - 20%
- Anterior plagiocephaly
- Presentation
- Ipsilateral flattening of the forehead
- Elevation of supraorbital rim (Harlequin deformity)
- Shallow orbit and globe can be proptotic
- Ipsilateral deviation of nasal bridge
- Bicoronal Craniosynostosis
- Most common syndromic craniosynostosis - 20%
Third most common non syndromic craniosynostosis - 10% - Brachycephaly
- Presentation
- High cranial vault
- Recession of supraorbital ridges
- Forehead bulge
- Most common syndromic craniosynostosis - 20%
- Metopic Craniosynostosis
- Accounts for 10% of non syndromic craniosynostosis
- Trigonocephaly
- Presentation
- Narrowing of the forehead
- Narrowing bitemporal region
- Bulging biparietal regiong
- Recessed lateral orbital rim and elevation of medial superior orbital rim
- Lambdoid Craniosynostosis
- 1:30 000
- Difficult to distinguish from deformational plagiocephaly
- Posterior plagiocephaly (Rhomboid)
- Presentation
- Head shape rhomboid
- Ear is inferiorly displaced
Craniofacial Dysostosis
Craniofacial dysostosis - Describes the syndromic forms of craniofacial synostosis
Involves not only cranial vault but also skull base and midface skeletons
Craniofacial Treatment Protocol
- 0-9 months
- Airway
- CPAP
- Surgical
- Lip tongue adhesion
- Distraction osteogenesis
- Tracheostomy
- Feeding
- NG feeds
- Specialised bottles
- Vision
- Lubricating eye drops
- Eyelid taping
- Airway
- 9-12 months
- ICP and brain development
- Fronto-orbital advancement and remodelling
- Cranial expansion
- Orbital expansion
- Posterior vault distraction
- “Melbourne technique”
- Strip craniectomies
- Fronto-orbital advancement and remodelling
- ICP and brain development
- 1-6 years
- Repeat vault expansion as required
- Hearing
- EAC atresia or otitis media
- Tympanostomy tubes
- OSA
- CPAP
- Tonsils and Adenoids
- Tracheostomy
- 6-12 years
- OSA
- Usually - LeFort III or distraction
- Other techniques
- Monobloc
- Facial bipartisan
- Box osteotomy
- Vision
- Strabismus surgery
- Corneal grafting
- Tarsorrhaphy
- OSA
- 14 years
- Dentofacial deformity
- LeFort I or Bimax
- Distraction
- Cranioplasty and recontouring
- Rhinoplasty
- Dentofacial deformity
Pierre Robin Sequence
- Micrognathia
- Glossoptosis
- Cleft palate
Branchial Arch Syndromes
Craniofacial Dysostosis Syndromes
Craniofacial Dysostosis
Syndrome
Epidemiology & Genetics
Classification
Clinical signs
OMS Considerations
Other specialty considerations
Crouzon
Acrocephalosyndactyly
1:50 000
FGF2
Chromosome 10
Autosomal dominant
Bicoronal synostosis
Brachycephaly
Can involve other sutures
Hypoplastic orbits
Exorbitism
Hypertelorism
Frontal bossing
Midface hypoplasia
10% hydrocephalus
No limb abnormalities
Normal intellect
Hypoplastic orbit
Midface hypoplasia
Class III AOB DFD
Ophthal
Craniofacial
Neurosurg
Aperts
Acrocephalosyndactyly
Crouzons + Hands
1:100 000
FGF2
Chromosome 10
Autosomal dominant
Bicoronal synostosis
with other sutures
Acrobrachycephaly
Hypoplastic orbits
Exorbitism
Hypertelorism
Frontal bossing
Midface hypoplasia
30% cleft palate
2% hydrocephalus
Limb abnormalities
Some internal organ anomalies
Developmental delay
Hand deformity
Type I - Spade
Type II - Mitten
Type III - Rosebud
Hypoplastic orbit
Midface hypoplasia
Class III AOB DFD
Ophthal
Craniofacial
Neurosurg
Plastics
Orthopaedics
Pfeiffer
Acrocephalosyndactyly
1:100 000
FGF1 & 2 - Type I & II
FGF2 - Type II
Autosomal dominant
Bicoronal synostosis
with other sutures
Type I - Turribrachycephaly
Type II - Cloverleaf
Early infant death
Type III - Skull base
Early infant death
Hypoplastic orbits
Exorbitism
Hypertelorism
Frontal bossing
Midface hypoplasia
Limb abnormalities
Thumb and tongue
Some internal organ anomalies
Developmental delay
Hypoplastic orbit
Midface hypoplasia
Class III AOB DFD
Ophthal
Craniofacial
Neurosurg
Plastics
Orthopaedics
Saethre-Chotzen
Acrocephalosyndactyly
1:25 000 to 50 000
TWIST1
Chromosome 7
Autosomal dominant
Uni or Bicoronal synostosis
Low set hairline
S shaped ptosis of upper lids
Brachydactyly or partial syndactyly
Low set ears
Normal intelligence
Muenke
1:30 000
FGFR3
Autosomal dominant
Uni or Bicoronal synostosis
Hypertelorism
Strabismus
Hearing loss
Developmental delay
Seizures
Limb abnormalities (mild)
Carpenter
1:
RAB23
Chromosome 6
Autosomal recessive
Short stature
Congenital heart defects
Obesity
Poly or syndactyly
Developmental delay
Cleft - Classification
- Veau
- 1 - Soft palate
- 2 - Soft and Hard palate
- 3 - Soft, Hard palate and Alveolus
- 4 - Bilateral lip, alveolus, hard and soft palate
- Millards (Modified Striped Y Classification)
Kernahan and Stark- 1 and 4 - Lip
- 2 and 5 - Alveolus
- 3 and 6 - Primary palate
- 7 and 8 - Hard palate
- 9 - Soft palate
