Cleft Lip: Primary and Secondary Deformities

1. This presentation will probably involve audience discussion, which will create action items. Use PowerPoint to keep track of these action items during your presentation • In Slide Show, click on the right mouse button • Select “Meeting Minder” • Select the “Action Items” tab • Type in action items as they come up • Click OK to dismiss this box • This will automatically create an Action Item slide at the end of your presentation with your points entered. Cleft Lip: Primary and Secondary Deformities Nadia Afridi MD, BSc (Med) Kenneth Wilson MD, FRCSC

2. Historical background • Cleft lip • 1st repair • Unidentified Chinese surgeon • 390 AD • 1st description • 1300 AD • Straight line repair • Malgaigne • 1843 • Local flap closure • Mirault • Lateral flap to fill medial deficit • Basis of most modern techniques

3. Historical background • Cleft lip • Millard • 1955 • Concept: • Lateral flap advancement into upper lip • Downward rotation of medial segment • Preserves Cupid’s bow and philtral dimple • Tension of closure at alar base • Reduces nasal flare • Improved alveolar molding • Most popular method for unilateral lip closure

4. Embryology basics • Primary germ layers • Ectoderm • Cutaneous,

5. Embryology basics

6. Embryology basics • Facial development • 4th to 10th week gestation • Fusion of five processes: • Unpaired frontonasal process • Nose and philtrum • Paired maxillary swellings • Cheeks and upper lip • Paired mandibular swellings • Lower face • Lower lip and chin

7. Embryology basics

8. Embryology basics

9. Embryology basics

10. Embryology basics • Facial development • 6th week • Medial nasal processes migrate and fuse

11. Embryology of Clefting Facial Development 6th week Medial nasal processes(green)migrate toward each other and fuse 7th week Inferior tips of medial nasal processes expand laterally to form the intermaxillary process Tips of maxillary swellings (yellow) grow to meet the intermaxillary process and fuse Failure of maxillary swellings to fuse with intermaxillary process = cleft lip Clinical Aspects of Cleft Lip/Palate Reconstruction

12. Classification • Standardized methods • Key anatomic structure • Incisive foramen • Primary • Lip • Premaxilla • Alveolus • Secondary • Soft palate • Hard palate

13. Classification • Cleft of primary palate (cleft lip) • Unilateral • Incomplete • Lip only • Complete • Primary palate • Lip, nasal floor, alveolus

14. Classification • Cleft of primary palate (cleft lip) • Bilateral • Incomplete • Lip only • Complete • Primary palate • Lip, nasal floor, alveolus

15. Classification • Standardized methods • Kernahan • 1971 • “Striped Y” • Incisive foramen as focal point • Position 7 • Hard palate • Position 8 • Soft palate • Position 9 • Submucous cleft

16. Classification • Standardized methods • Millard modification

17. Epidemiology • Cleft lip and palate • Racial heterogeneity • Asians • 2.1 in 1000 live births • Whites • 1 in 1000 live births • African Americans • 0.41 in 1000 • Isolated cleft palate • Constant incidence • 0.5 in 1000 live births

18. Epidemiology • Relative incidence • Fraser and Calnan • 21% cleft lip • 46% cleft lip and palate • 33% cleft palate • Left > right > bilateral • 6:3:1

19. Epidemiology • Associated factors • Parental age • Incidence increases with age • Father’s age more significant • Risk highest with both parents over 30 years • Seasonal incidence • No strong evidence • Birth order • No evidence • Social class • High incidence in low socio economic status • Poor nutrition

20. Epidemiology • Associated factors • Parental head topography • Parents: • Underdeveloped maxillae • Flattened anterior surfaces • Trapezoidal/rectangular faces • Thin upper lips • Increased interorbital and intercoronoid process distance • Wide nasal cavity • Increased length of anterior cranial base

21. Epidemiology • Associated defects • Overall incidence of associated defects 29% • CNS malformations • Club foot • Cardiac abnormalities • Highest with isolated cleft palate

22. Etiology • Categorize cleft deformity • Malformation • Morphologic defect of organ or body region • Intrinsic error of morphogenesis • Disruption • Morphologic defect • Extrinsic breakdown of normal developmental process • Ie. infectious • Deformation • Abnormal form, shape or position caused by mechanical forces

23. Etiology • Categorize cleft deformity • Syndromic • More than one malformation • More than one developmental field • Non-syndromic • One defect • Multiple anomalies as a result of a single initiating event or primary malformation

24. Genetics • Associated syndromes • Stickler • Cleft palate alone • Autosomal dominant • Type 2 collagen gene mutation • Myopia, retinal detachment and glaucoma • Van der Woude’s syndrome • Autosomal dominant • Bilateral lower lip pits • Absence second molars

25. Genetics • Associated syndromes • Blepharo-cheilo-dontic syndrome • Eyelids • Euryblepharon • Ectropion • Lagophthalmia • Teeth • Oligodontia • Conical crown form • Autosomal dominant

26. Genetics • Non syndromic presentations • Cleft lip +/- palate • Different chromosome regions • 6p23 • 2q13 • 19q13.2 • Cleft palate alone • Recessive single major gene • ? 2q13/TGFA

27. Environmental agents • Chemical agents • Animal model • Alcohol • No increased risk of cleft with low quantities of EtOH • Increased risk of clefting with higher quantities of EtOH • Dilantin • 10X higher risk of cleft lip • Smoking • Dose response relationship • Increased risk of clefting

28. Environmental agents • Folic acid • Beneficial effect • Reduced incidence of unilateral cleft lip and palate with at risk mothers • Isotretinoin • Accutane dysmorphic syndrome • Rudimentary external ears • Absent/imperforate auditory canals • Triangular microcephalic skull • Cleft palate • Depressed midface • Brain/jaw/heart anomalies

29. Environmental agents • Altitude • Higher relative risk in highlands • Also microtia • Preauricular tags • Branchial arch anomaly complex • Constriction band • Anal atresia • Speculation • Chronic hypobaric hypoxia during embryologic and fetal development

30. Multifactorial model • Non mendelian inheritance • Concept of genetic susceptibility • Threshold determined by genetics and enviroment • Defect clusters in families • Risk for first degree relatives = population risk • Risk for second degree relatives = lower than first degree • Greater severity; increased recurrence • Increased number of affected relatives; increased risk • Risk of recurrence increased in relatives of less affected sex • Consanguinity increases risk

31. Genetic counseling

32. Prenatal diagnosis • Ultrasound • Late 1st trimester/early second trimester • 3.5 MHz scanner • Cleft lip/nose at 15 weeks • 6.5 MHz transvaginal scanner • 12 weeks • Controversy • Termination of pregancy • Northern Israel • 23/24 abortions • 1/24 couple would terminate if faced with situation again • Variation in culture

33. Timing of surgery • Rule of tens • 10 weeks of age • Allow lip tissues to develop • 10 lbs in weight • Hgb 10 g/dL (100 in our world!) • WBC less than 10,000

34. Anatomy • Millard • Critical anatomic features of unilateral cleft lip: • Cleft side • Premaxilla outwardly rotated • Lateral maxillary segment retropositioned • Inferior edge of septum dislocated out of vomer groove • Nasal spine in floor of nostril • Shortened columella

35. Anatomy • Millard • Critical anatomic features of unilateral cleft lip: • Cleft side • Lower lateral cartilage attenuated • Medial crus lower in columella • Dome rests below opposite alar cartilage • Lateral segment flattened and spread across cleft at obtuse angle • Alar crease continues through rim of ala • Alar base rotated outwardly in a flare

36. Anatomy • Millard • Critical anatomic features of unilateral cleft lip: • Cleft side • Skin curtain droops over alar rim • Reduces apparent height of columella • Deficient vestibular lining • Orbicularis oris ends upward at margin of cleft and inserts into alar wing • Incomplete cases muscle does not cross cleft • Short philtrum

37. Anatomy • Millard • Critical anatomic features of unilateral cleft lip: • Non cleft side • Shortened philtral height • Shortened columella • Two thirds of Cupid’s bow, one philtral column and a dimple hollow preserved • Hypoplastic muscle between philtral midline and cleft

38. Anatomy • Muscular deformity • Muscular bulge • Haphazard arrangement of muscle fibers • Transverse/oblique/anteroposterior • Orbicularis oris • Two well defined components • Deep orbicularis

39. Unilateral cleft lip • Evaluation and classification • Three categories of unilateral cleft lip: • Microform cleft lip • Incomplete cleft lip • Complete cleft lip • Associated nasal deformity: • Mild • Moderate • Severe

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