Cleft Lip and Cleft Palate

Posted by e-Medical PPT Monday, July 2, 2012
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.

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 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.

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
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
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