Cleft Lip

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Cleft Lip Palate

• Eduardo D. Rosas Blum, MD
• August 7, 2007

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While on call

• 25yo G1 P1 delivers a full-term infant after
  12hrs of uneventful labor.
• The infant was found to have a cleft lip and
  palate.
• How should the care for this infant, and his
  mother, be?

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Birth defects

• Malformations
• alterations in normal development
• Deformations
• abnormal mechanical force on an otherwise normal
  fetus
• Disruptions
• disruption of an otherwise normal developmental
  process

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Introduction

• Most common craniofacial malformation
• Cleft lip with or without cleft palate (CL/P) or
  isolated cleft palate (CP).
• CL/P and CP differ with respect to
• Embryology, etiology, candidate genes, associated
  abnormalities, and recurrence risk.

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Prevalence

• CL/P is more common than CP and varies by
  ethnicity.
• CL/P
• High in American Indians and Asians (1/500
  newborns)
• Low in American blacks (1/2000 newborns)
• Intermediate level in Caucasians (1/1000
  newborns)
• Isolated CP occurs in only 1/2500 newborns and
  does not display variation by ethnicity.

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Cleft Lip

• Complete closure at 35 days postconception
• 7 weeks from the LMP.
• Lateral nasal, median nasal, and maxillary
  mesodermal processes merge.
• Failure of closure can produce unilateral,
  bilateral, or median lip clefting.
• Left side unilateral cleft is the most common.

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Cleft lip Severity

• Mild, involving only the lip
• Extend into the palate and midface thereby
  affecting the nose, forehead, eyes, and brain.

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Cleft Palate

• Lack of fusion of the palatal shelves.
• Abnormalities in programmed cell death may
  contribute to lack of palatal fusion(?).
• Isolated disruption of palate shelves can occur
  after closure of the lip
• Palatal closure is not completed until 9 weeks
  post-conception.

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Etiology

• Genes
• Control cell patterning, cell proliferation,
  extracellular communication, and differentiation
• Clefting usually represents a genetically complex
  event
• Single Mendelian disorders associated with
  clefting are rare
• 2 to 20 genes are thought to interact to result
  in facial clefting

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Etiology

• Dlx gene
• Direct the destination of the distal skeletogenic
  mesenchyme elements to the palate.
• Mutations of these genes result in isolated
  palatal defects.
• Sonic hedgehog gene
• Protein that mediates ectodermal functions, might
  regulate the outgrowth and fusion of the facial
  domains.
• TGF-alpha variant
• Receptor ligand, usually a rare variant of
  TGF-alpha
• Family histories of cleft defects
• Additive teratogenic effect with agents such as
  cigarette smoking and alcohol

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Etiology

• TGF-beta-3 gene
• Expressed just prior to palatal fusion.
• Results in isolated cleft palate.
• IRF 6
• Identified in autosomal dominant van der Woude
  syndrome.

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Environmental agents

• Several agents that are associated with an
  increased frequency of midfacial malformation.
• Medications phenytoin, sodium valproate,
  methotrexate.
• With corticosteroids there is no evidence of an
  increase in malformations.
• Possible association could not be excluded

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Etiology

• Cigarette smoking
• Noted with mothers of children with facial
  clefting, both CL/P and CP.
• Teratogenesis has been attributed to hypoxia as
  well as a component of tobacco (cadmium).
• Alcohol
• Associated with an increased risk of fetal facial
  clefting.
• Alterations in cell membrane fluidity or reduced
  activity of specific enzymes such as superoxide
  dismutase.
• Folate deficiency
• Contributes to a range of birth defects.
• Evidence is emerging for a similar association
  with the development of CL/P.

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Prenatal Diagnosis

• Diagnosed until the soft tissues of the fetal
  face can be clearly visualized sonographically
  (13 to 14 weeks).
• The majority of infants with cleft lip also have
  palatal involvement
• 85 of bilateral cleft lips
• 70 associated with cleft palate.
• Cleft palate with an intact lip comprises 27 of
  isolated CL/P

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Prenatal Diagnosis

• The sensitivity is highest when is associated
  with other structural anomalies.
• Isolated CL/P in a low risk population, the
  sensitivity may only reach 50 percent.
• Cleft palate with an intact lip is the most
  difficult orofacial malformation to diagnose
  prenatally.
• Detected in only 13 of 198 cases in one large
  series.
• Three-dimensional ultrasound, can provide a clear
  image of the malformation

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Prenatal Diagnosis
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Syndrome ?

• A thorough examination of the newborn or
  stillbirth is always warranted.
• Orofacial clefting is noted in over 300
  syndromes.
• 3 deserve additional comment.
• frequency, variable presentations, and modes of
  inheritance

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Deletion of chromosome 22q11

• DeGeorge syndrome.
• Spectrum in addition to cleft palate
• Conotruncal cardiac defects, thymic hypoplasia,
  and velopharyngeal webs.
• Majority of cases represent a new microdeletion
• In families with conotruncal malformations and/or
  CP, further evaluation is appropriate.

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Oral-facial-digital syndrome, type I

• X-linked dominant syndromes.
• Manifestations in affected females are variable
  and subtle
• hyperplastic frenula
• cleft tongue
• cleft lip/palate
• digital anomalies

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Treacher-Collins syndrome

• Autosomal dominant disorder
• Downward slanting palpebral fissures,
  micrognathia, dysplastic ears, and deafness.
• Mental development is normal.
• The mutations appear to increase cell death in
  the prefusion neural folds.
• A family history with deafness, ear
  abnormalities, or CP.

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Obstetrical Management

• Amniocentesis for karyotype should be offered.
• high rate of chromosomal defects
• Difficulty in prenatal sonographic diagnosis
  supports chromosomal evaluation
• As of January 2002, "in utero" correction had
  been attempted only once in Mexico
• The child delivered prematurely and died at two
  months of life

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Recurrent Risk
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Postnatal Management

• The Care will entail attention, not only to
  surgical repair, but also more immediate needs
  such as feeding.
• Primary lip repairs can often be undertaken at
  three months of age with palatal repairs around
  six months.
• Additional surgeries as well as speech and
  orthodontic therapies are often needed.
• The cleft Lip and Palate Association
  (www.clapa.com/) provides support and information
  for parents.

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Cleft lip repair. The edges of the cleft between
the lip and nose are cut (A and B). The bottom of
the nostril is formed with suture (C). The upper
part of the lip tissue is closed (D), and the
stitches are extended down to close the opening
entirely (E).
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Feedings

• Infants with CL/P have few feeding problems.
• If the cleft involves the hard palate, the infant
  is usually not able to suck efficiently.
• Experiment (special nipples or alternate feeding
  positions)
• The infant should be held in a nearly sitting
  position during feeding
• Prevents flowing to the back into the nose.
• Should be burped frequently, (q 3-4min).

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Feedings

• It is important to keep the cleft clean
• Breastfeeding is extremely challenging.

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Haberman Feeder

• Activated by tongue and gum pressure.
• Milk cannot flow back.
• Replenished continuously as the baby feeds.
• Prevents the baby from being overwhelmed with
  milk.
• A gentle pumping action to the body of the nipple
  will increase flow.

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Family Care

• Have a family meeting with both parents present.
• Infant should be brought to the parents as soon
  the mother and the infant are in satisfactory
  condition.
• Allow the parents to observe, react and ask
  questions about the infant.
• Explained the defect and the how the surgeon will
  most likely correct the clefts.
• Before and after pictures are helpful.

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Family Care

• Emphasize as possible to the parents the normal
  healthy features of the baby.
• The baby should be present when the defect is
  explained, as ugly as the cleft might be.
• Training the mother about feeding techniques and
  avoiding complications.

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References

• Klaus Fanaroff. Care of the high-risk
  neonate. Saunders. 5th edition. 2001 USA.
• Colin D. Rudolph Rudolphs Pediatrics
  McGraw-Hill. 21st edition. 2002. USA.
• Christensen, K, et al. Cleft-twin sets in
  Finland 1948-1987. Cleft Palate Craniofac J
  1996 33530.
• Clementi, M, et al. Evaluation of prenatal
  diagnosis of cleft lip with or without cleft
  palate and cleft palate by ultrasound experience
  from 20 European registries. EUROSCAN study
  group. Prenat Diagn 2000 20870.
• Milerad, J, et al. Associated malformations in
  infants with cleft lip and palate a prospective,
  population-based study. Pediatrics 1997
  100180.
• Cockell, A, Lees, M. Prenatal diagnosis and
  management of orofacial clefts. Prenat Diagn
  2000 20149.