Docstoc

Cleft Lip _ Palate.ppt

Document Sample
Cleft Lip _ Palate.ppt Powered By Docstoc
					Cleft Lip & Palate




Eduardo D. Rosas Blum, MD
      August 7, 2007
             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?
                  Birth defects
   Malformations
       alterations in normal development
   Deformations
       abnormal mechanical force on an otherwise normal
        fetus
   Disruptions
       disruption of an otherwise normal developmental
        process
                   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.
Unilateral incomplete       Unilateral complete         Bilateral complete




Incomplete cleft palate   Unilateral complete lip and     Bilateral complete
                                   palate
                  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.
                     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.
             Cleft lip Severity

   Mild, involving only the lip

   Extend into the palate and midface thereby
    affecting the nose, forehead, eyes, and brain.
                 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.
                    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
                          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
                      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.
          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
                          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.
           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
            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
Prenatal Diagnosis
                    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
     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.
     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
    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.
     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
                     Recurrent Risk
           Affected relative                       Risk in child, percent
                     Cleft lip with or without cleft palate
Parent                                                        2%
Sibling                                                   4 – 7%
Parent and Sibling                                      11 – 14%
Two Siblings                                               10%
                               Cleft palate only
Parent                                                        7%
Sibling                                                   2 – 5%
Parent and sibling                                      14 – 17%
       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.
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).
                      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).
                   Feedings

   It is important to keep
    the cleft clean


   Breastfeeding is
    extremely challenging.
            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.
                  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.
                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.
 Tom Brokaw              American television journalist.



Jesse Jackson    Politician, professional civil rights activist and
                                 Baptist minister




Peyton Manning                  NFL quarterback


 Annie Lennox          Scottish pop musician and vocalist



 Mark Hamill                          Actor


 Tutankhamun     Egyptian Pharaoh who may have had a cleft
                    lip according to diagnostic imaging
                       References
   Klaus & Fanaroff. “Care of the high-risk neonate”. Saunders”.
    5th edition. 2001 USA.
   Colin D. Rudolph “Rudolph’s Pediatrics” McGraw-Hill. 21st
    edition. 2002. USA.
   Christensen, K, et al. “Cleft-twin sets in Finland 1948-1987”.
    Cleft Palate Craniofac J 1996; 33:530.
   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; 20:870.
   Milerad, J, et al. “Associated malformations in infants with cleft
    lip and palate: a prospective, population-based study”.
    Pediatrics 1997; 100:180.
   Cockell, A, Lees, M. “Prenatal diagnosis and management of
    orofacial clefts”. Prenat Diagn 2000; 20:149.

				
DOCUMENT INFO
Shared By:
Categories:
Tags:
Stats:
views:50
posted:11/6/2012
language:Unknown
pages:35
handongqp handongqp
About