CHAPTER 05: CLEFT Flashcards
Describe the embryology of the head and neck
Wk 4-5: 6 paired branchial arches (paired swellings) form along the neck of the embryo
1st arch = craniofacial clefts, 2nd arch = tonsilar fossa
Outside grooves = clefts (between arches 1&2 = external auditory meatus and eardrum)
Inside grooves = pouches (out pouchings of foregut)
Stomadeum = cranial opening of foregut → mouth and nose
Skeletal components = from inward migration of neural crest cells
What is present in the 1st branchial arch?
What syndromes are associated in this area?
Paired maxillary prominences → Quadrate cartilage → incus + greater wing sphenoid Bones → maxilla, zygoma, squamous temporal bone (intramembranous ossification)
Paired mandibular prominences → Meckel’s cartilage → malleus + mandibular condyles
Artery → maxillary branch of external carotid
Nerve - Trigeminal → muscles of mastication (temporalis, masseter, pterygoids, ant belly digastric, mylohyoid, tensor veli palatine, tensor tympani. Motor from mandibular branch, sensory from all three divisions of V.
Mesenchyme → dermis of the face, direct ossification → Body and ramus of mandible
Syndromes → Treacher Collins, Pierre Robin, Stickler.
What is present in the 2nd branchial arch?
What syndromes are associated in this area?
Artery → Stapedial
Cartilage → Forms stapes, lesser horn and upper part hyoid
Bon e→ body and ramus of mandible
Nerve → Facial VII
Muscles → Stapedius, Stylohyoid ,Muscles of facial expression, Post belly digastric
Syndromes → Möbius’ syndrome = failure of innervation of facial muscles
What is present in the 3rd pharyngeal pouch?
What syndrome is associated with this area?
Cartilage → greater horn and inferior body of hyoid
Nerve → IX Glossopharyngeal
Muscles → stylopharyngeus, upper pharyngeal constrictors
Thymus and inferior III parathyroids
Syndromes - Velo-cardio-facial (=DiGeorge)
What develops from the 4th & 6th arches?
Cartilage - Thyroid, cricoid, arytenoid, corniculate and cuneiform
Nerve → superior laryngeal branch of Vagus
Muscles → cricothyroid, levator palati, palatopharyngeus, palatoglossus (remaining palate muscles) and lower constrictors of pharynx.
6th arch intrinsics supplied by recurrent laryngeal branch of Vagus
Superior VI parathyroids
Describe the embyology of facial development
Wk 4-6
Frontonasal prominence, 2 maxillary and 2 mandibular prominences
Frontonasal prominence is formed by proliferation of mesoderm ventral to forebrain (NOT from branchial arches)
4th wk
The developing frontonasal prominence, paired maxillary processes and paired mandibular processes surround the primitive oral cavity
5th wk paired placodes (ectodermal thickenings) form on inferior border of frontonasal prominence Medial placode → medial nasal process Lateral placode → lateral nasal process Between the two = nasal pit → nostril
6th wk
Medial nasal processes have merged with maxillary processes → upper lip and primary palate
Lateral nasal processes → nasal alae
Mandibular processes fuse → lower jaw
How do the different congenital abnormalities form as a result of failed fusion?
Failure of fusion of
- medial nasal & maxillary processes → cleft lip (+/- bilateral)
- Lateral nasal & maxillary process (alar groove) → Tessier #3 cleft
- Maxillary & mandibular processes → Tessier #7 cleft
How does the palate form?
6th wk
- Secondary palate develops as bilateral outgrowths from the maxillary processes, which grow vertically down the side of the tongue.
- Subsequently, the palatal shelves elevate (R then L) to a horizontal position above the tongue, contact one another and commence fusion.
- Fusion of the palatal shelves ultimately divides the oronasal space into separate oral and nasal cavities
How does the neural crest form and what does it form?
- Lies on either side of the developing notochord
- Contains pluripotent ecto-mesenchymal tissue
- Cells originating in the neural crest differentiate into their final cell type when they get to their final destination
- Derivatives include → Endocrine, Melanocytes, Connective tissue, Muscle, Neural tissue
What is cleft lip and palate?
Cleft Lip → congenital abnormality of the primary palate (fuses first).
Anterior to the incisive foramen = lip, alveolus, hard palate ant to foramen.
Can be complete / incomplete / microform, uni / bilateral, +/- cleft palate
Complete = separation of lip, nasal sill + alveolus
Incomplete = variable lip shortness, nasal sill intact - Simonart’s band
Microform (‘form fruste’) - vertical furrow or scar, notch in vermillion and white roll, variable lip shortness
Cleft Palate → congenital abnormality of the secondary palate (fuses second).
Posterior to the incisive foramen = remaining hard palate lying posterior to foramen and soft palate.
Can be uni / bilateral, submucous
What is the incidence of CL&P?
CL / CLP UK → 1 in 700 Caucasians → 1 in 1000 live births Asians → 2 in 1000 Africa → 0.4 in 1000
Combined CL&P → 45% Isolated CP → 30% Isolated CL → 20% Left : Right : Bilateral CL = 6 : 3 : 1 CL/P - more common in boys CPO - more common in girls
250,000 per year worldwide, 10% get repaired
1000 per year in UK
CSAG - Clinical Standards Advisory Group
1998 - CL&P report showed that cleft care outcomes in UK were poor compared to N Europe.
Recommendations: 57 cleft units amalgamated to 8 -15 regional centres doing >30 cases / yr.
The aim of this reorganisation was to concentrate surgical and other specialist skills and to facilitate audit and research.
What is the aetiology of CL and CLP?
CL and CL&P ♂ > ♀ 2 : 1 Relative family assoc If ..... , chance of CL = - no clefts 0.1% - 1 sibling 4% - 2 sibs 10% - parent 4% - sib + parent 17% Chromosome 6P, TGFa, TGFb implicated Not usually associated with syndromes except - Van der Woude (AD – Chromosome 1) Multiple lip pits, Absent second premolars. Popliteal pterygia (webbing) Drugs – Retinoids, anticonvulsants, steroids, folate antagonists, smoking
What is the aetiology of CP?
Isolated CP 1:2000 live births ♀ > ♂ 2:1 non-syndromic CPO If ...... , chance of CP = - 1 sibling 3.5% - 2 sibs 13% - 1 parent 3.5% - 1 parent + sib 10% - 1 parent + 2 sibs 24% - up to 60% are part of syndrome rather than familial
How does CL occur?
CL caused by either
- Failure of fusion between the medial nasal process and the maxillary process or
- Failure of mesenchymal penetration into layer between ectoderm and endoderm → breakdown between the processes after initial fusion
How do you classify cleft lip and palate?
Kernohan’s Strip Y classification
- R lip
- R alveolus
- R palate ant to incisive foramen
- L Lip
- L alveolus
- L palate ant to incisive foramen
- Ant hard palate
- Post hard palate
- Soft palate
Others
Veau classification 4 = SP, +HP, + uni / bilateral prepalate
LAHSAL - lip, alveolus, HP, SP, alveolus, lip (capital letter = complete)
What is the anatomy of a complete cleft lip?
What is the anatomy of an incomplete cleft lip?
- discontinuity in skin and soft tissues of upper lip
- vertical soft tissue deficiency on cleft side
- lip is short and rotated
- abnormal attachment of lip muscles into alar base and nasal spine
- cleft in alveolus
- defect in hard palate (ant to foramen)
- nasal deformity
Simonart’s Band: A bridge of skin that crosses the bottom of the nostril on the cleft side of a cleft lip - giving the appearance of an intact nasal sill
Forme fruste / microform cleft = mild form of incomplete CL
- Kink in alar cartilage, notch in vermillion, fibrous band across the lip, muscles in wrong place.
Prenatal screening of CLP (Matthews PRS 1998)
- high false -ve rate (low sensitivity, high specificity)
- low false +ve rate
- parents found prenatal counselling helpful
- 33% had associated limb / spine anomalies
- 24% had CV anomalies
What occurs at the initial assessment of a cleft lip baby?
- check any other congenital abnormalities
- will thrive and develop as normal, go to normal school etc
- will be followed up regularly with MDT for further assessment, planning and treatment
- assess breathing: if dyspnoeic, nurse prone, NPA, tongue stitch, CPAP
- assess feeding: trial breastfeeding, soft teat, squeezy bottles (CP worse than CL)
How do you counsel parents of newly diagnosed CLP?
Congratulate parents on new baby.
Introduce yourself and explain why you’re there:
(a) Take a history, examine (baby’s cleft, general health + breathing and feeding) and highlight concerns and advise.
(b) Counsel and educate parents on MDT, imminent assessments and surgery.
- hearing
- 3mths CL and ant palate repair
- 6-9mths post palate repair
(c) Outline the follow-up with different teams and possible future surgery. OPD: - hearing - SLT - dental & orthognathic - psychology
Future surgery + times
- VLP
- ABG / orthognathic
- cleft nose rhinoplasty
(d) Provide point of contact for parents via cleft nurse.
- Reassure parents its not fatal
- child is otherwise healthy
? Prenatal diagnosis - establish parent understanding
Tell me about how to counsel mum about feeding CLP babies
difficulty in sucking effectively as unable to create a good vacuum inside the mouth, and correctly position the tongue.
cleft palate only babies may be more difficult to feed than those with cleft lip or cleft lip and palate.
Occasionally, may need naso gastric tube feeding and teat/breast feeding.
Obturator plates
- assist with breast feeding
- protect the delicate tissue in the roof of the mouth
- keep baby’s tongue out of the cleft
- apply pressure to close and align the cleft prior to surgery
- weekly review with orthodontist
Can try breast feeding Feed at 45 degrees, 20-30mins (longer will tire baby out) The bottle (or in the case of the Haberman feeder, the teat) can be squeezed while the baby is sucking. The teat often has a one-way valve which keeps it full of milk. This is helpful for babies who can compress the teat but can't generate suction. It is also thought to minimise wind. 'Pigeon nipple' - teat has 'cross-cut' rather than a hole in the end. This stops milk dripping into the baby's mouth when they have stopped for a rest during feeding.
Haberman feeder (special needs feeder) - teat is squeezed Orthodontic shaped teat (MAM) Hole on non-cleft side and towards the tongue so milk is aimed downwards and away from the cleft. If insufficient energy to suck from a teat, use cup and spoon method - scoop attached to a soft bottle (e.g a Softplas bottle and scoop)
What is presurgical orthopaedics?
It can be divided into dynamic or static appliances
50% units in UK and 75% units in US use it
Static
- nasoalveolar moulding: nasal stent, intraoral molding plate
- lip adhesion - steristrip across cleft lip
Dynamic
- Latham device
How do you explain to parents the course of treatment for CLP?
Explain MDT and discuss course of treatment
Birth
- Hospital visit to family by one of the clinical nurse specialists
Outpatient MDT clinic - discuss operation
6-8 weeks - hearing test +/- paediatric OPA
3 months - Admission for lip repair
6-9 months - Admission for palate repair
12 months - MDT clinic - post op and hearing test
18 months - SLT assessment
2 years - MDT - cleft clinic
3 years clinic - SLT assessment
4 years MDT - cleft clinic
5 years OPA - clinical review
7.5 years MDT - cleft clinic
10 years Outpatient clinic - clinical review
12.5 years MDT - cleft clinic
15 years Outpatient clinic - clinical review
16 years MDT - cleft clinic
20 years Outpatient clinic - clinical review
What is the surgical timeline?
3/12: lip & anterior hard palate
lip - Millard rotation advancement
ant hard palate - vomerine flap
nose - McComb
6/12: remaining hard & soft palate
intravelar veloplasty, vomerine flap
Age 3-5:
lip (lengthening) & nose revision (Tajima)
palate or throat (pharyngoplasty - superior pharyngeal flaps or Hynes, Orticochea) surgeries
speech therapy
Age 6: orthodontics (early dental rx)
Age 7-10: closing of gum line with bone grafting from hip (alveolar bone grafting) to prevent root of canines collapsing into cleft
Age 11: orthodontics (permanent dentition)
Age 12-18yrs: jaw surgeries, further lip and nose revisions (orthognathic e.g. Le Fort 1 advancement to correct Class III malocclusion, rhinoplasty)
Why not lip & palate at 3/12?
o babies are obligate nasal breathers up to 6/12 and nasal secretions in babies are moist.
o Also no evidence that repair <1yr → speech
What is the timing of lip repair?
Conventional
3 mths - Lip and ant palate
6 mths - Cleft in hard and soft palate
Neonatal - within 48hrs
Delaire
6-9mths - Lip and soft palate
12-18mths - Remaining palate
Schweckendick
< 1yr - Lip and soft palate
8yr - hard palate
Gothenburg
Lip and SP 3/12
HP 7/12 or 12/12 or 3/12 trial
TOPS trial
What is the TOPS trial?
Timing of Primary Surgery for Cleft Palate
Multicentre RCT with parallel design - UK, Scandinavia and Brazil.
650 infants w isolated cleft palate medically fit for op @ 6 months & meet inclusion criteria, randomised to
- Surgery at age 6 months, OR
- Surgery at age 12 months.
Main objective: determine whether surgery for cleft palate, using a specified technique, at age 6 months, when compared to surgery using the same technique age 12 months, improves speech development.
Followed up at 12 months, 3 years and five years for assessment of the primary (age 5) and secondary outcomes.
What are the complications of nasoalveolar moulding?
Irritation to oral and nasal mucosa (daily cleaning, device checked weekly)
Irritation to skin tape (duoderm to skin)
Dislodged mould causing airway obstruction (hole made in palatal portion of mould to avoid this)
What are pre-surgical orthopaedics?
Devices that mould and manipulate alveolar palatal segments → narrows cleft and aligns alveolar processes.
Passive devices
- obturator plates
- feeding plates
Dynamic appliances
- Latham appliance
- Nasoalveolar moulding device
What are the aims of cleft lip repair?
- re-establishment of muscle continuity
- re-creation of the normal landmarks of a lip
- with minimal scars
- Reconstruct the normal lip contour (Cupid’s bow)
- Restore vertical height of lip along philtral ridge (includes creation of a natural appearing philtral tubercle and avoiding whistle deformity)
- Realign the fibers of orbicularis oris
- Minimise the appearance of scars on lip
- symmetrical alae (reposition displaced atrophic alar cartilages and alar base)
What is the Millard technique?
What are the advantages and disadvantages?
Rotation advancement technique
Rotation of a flap (A flap) in the philtrum (non cleft side) downwards
and advancement of a flap from cleft side (B flap) to meet the A flap
Advantages
- scars along & disguised by philtral columns
- possible to adjust the degree of lip lengthening during surgery (cut as you go)
- Secondary revision is possible by re-elevation and re-rotation
Disadvantages
- difficult technique to learn
- places a scar across philtrum at nasal base
- Lip too short with a good nostril sill, says Sommerlad
What is important in unilateral cleft lip repair?
Most of Cupids bow and philtrum present - preserve these and throw nothing away
Consider nasal deformity
Remember the muscle alignment
What cleft lip repair techniques do you know?
Straight line, upper z-plasty, lower z-plasty, upper and lower z-plasties
Straight line
- Rose-Thompson
- Mirault-Blair-Brown-McDowell
Upper z-plasty
- Millard (draw)
- Wynn
Lower z-plasty
- Tennison-Randall (draw)
- Le Mesurier
- Noordhoff – Triangular Lateral Vermillion Flap
Upper and lower
- Skoog
- Trauner
What is the Tennison-Randall technique?
What are the advantages and disadvantages?
Triangular lower z-plasty
Advantages
- Relatively easy to learn
Disadvantages
- Not easy to adjust degree of lip lengthening intra-op
- Scar crosses lower aspect of philtral column
- Lip too long with a poor nostril sill, says Sommerlad
Describe the management of whistle deformity
- deformity due to inadequate red margin / vermilion
Surgical options
- mucosal advancement from buccal sulcus, including mucosal VY advancement (Kapetansky PRS 1971)
- Free graft from lower lip
- Abbe flap
What techniques are used to correct cleft nose deformities?
Primary / Secondary
At time of lip repair / when nasal growth complete (open)
McComb technique (PRS 1985)
- Dissection over dorsum of nose b/t nasal cartilage and skin
- Alar lift - Percutaneous mattress sutures through mobilised nasal cartilages and held in position with bolsters
Tajima technique
- Intranasal, reversed U-incision used to access nasal cartilages
- A trapezoid suture is then placed between the cartilages to correct the nasal deformity
Matsuma splints
- uses splints to mould nasal cartilages
- placed in the nostrils, pressure on lower laterals ↓ nasal deformity
Describe the deformities in cleft nose.
Result of abnormal muscles (orbicularis oris, levator labii superioris alequae nasi and tongue) and asymmetric growth centre push
- Widened alar base
- Hypoplastic & flat alar cartilage, separation of domes at tip, loss of projection
- No overlap of alar & upper lateral cartilages
- Hypoplastic maxilla
- Subluxed ala, rotated downwards
- Caudal septum pulled towards non-cleft side
- Flattened nasal bones
What are the aims of alveolar bone grafting?
Describe the technique
Aims
- robust repair of palatal cleft
- watertight closure of nasal lining
- secure lip repair
Usu age 6-11
Must correct orthodontics (mvmt of premaxilla and maxillary segments) before alveolar bone grafting
Technique
- raise gingival flaps
- harvest cancellous autograft
- pack into cleft, close flaps
Complications - wound dehiscence, graft exposure, resorption
What are the different orthodontic treatment stages in cleft?
Presurgical orthopaedics
Age 6: extraction of troublesome deciduous teeth, malocclusion correction of permanent teeth
Age 11+: realign teeth, correct cross-bite, Le Fort I osteotomy, maxillary advancement or distraction
