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Birth defects
Malformations
Deformations
Disruptions
Introduction
Unilateral incomplete
Unilateral complete
Bilateral complete
Bilateral complete
Prevalence
Cleft Lip
Cleft Palate
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
TGF-alpha variant
Etiology
TGF-beta-3 gene
Expressed just prior to palatal fusion.
Results in isolated cleft palate.
IRF 6
Environmental
agents
Etiology
Cigarette smoking
Alcohol
Folate deficiency
Prenatal Diagnosis
Prenatal Diagnosis
Prenatal Diagnosis
Syndrome ?
Deletion of
chromosome 22q11
DeGeorge syndrome.
Spectrum in addition to cleft palate:
Oral-facial-digital
syndrome, type I
Treacher-Collins
syndrome
Obstetrical
Management
Recurrent Risk
Affected relative
2%
Sibling
4 7%
11 14%
Two Siblings
10%
Cleft palate only
Parent
7%
Sibling
2 5%
14 17%
Postnatal
Management
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
Feedings
It is important to
keep the cleft clean
Breastfeeding is
extremely
challenging.
Haberman Feeder
Family Care
Family Care
Tom Brokaw
Jesse Jackson
Peyton Manning
NFL quarterback
Annie Lennox
Mark Hamill
Actor
Tutankhamun
References