Defects During the Development of the Face

In order to understand the problem of differentiation within the face, one must understand the processes which manipulate
cranial neural crest cells into the many types of forms and tissues that are present in the head/face region. There are three
major developmental points at which craniofacial development is analyzed.
1. Prior to migration, some neural crest cells commit themselves to becoming craniofacial cells. This commitment influences subsequent migration of the neural crest cells.
2. An inductive signal initiates a differentiation cascade.
3. Differentiation of neural crest cells into rudimentary craniofacial features occurs.
When these important processes do not take place, several developmental defects such as cleft palate and cleft lip might evidence themselves. Factors that are known to increase the probability of having a child with a craniofacial defect are: chronic or binge drinking during pregnancy, the use of antiseizure medication during pregnancy, and smoking during pregnancy. It has also been shown that genetic predisposition sometimes plays a role in these disorders.



Craniofacial Disorders

Cleft Lip
Clefts involving the upper lip, with or without cleft palate, occur about once in 1000 births, but their frequency varies widely among ethnic groups.  About 60-80 percent of affected infants are males.  The clefts vary from small notches of the vermilion border of the lip to larger divisions that extend into the floor of the nostril and through the alveolar part of the maxilla.  Cleft lip can be either unilateral or bilateral.
    Unilateral Cleft Lip---This condition results from the failure of the maxillary prominence on the affected side to unite with the merged medial nasal prominences.  This is the consequence of failure of the mesenchymal masses to merge and the mesenchyme to proliferate and push out the overlying epithelium.  In addition, the epithelium in the labial groove becomes stretched, and then breakdown of tissues in the floor of the lip into medial and lateral parts.
    Bilateral Cleft Lip---This condition results from the failure of the mesenchymal masses of the maxillary prominences to meet and unite with the merged medial nasal prominences.  The epithelium in both labial grooves becomes stretched and breaks down.  In bilateral cases, the defects may be similar or dissimilar, with varying degrees of defect on each side.  In complete bilateral cleft of the upper lip and alveolar processes, the intermaxillary segment hangs free and projects anteriorly.  Such defects are especially deforming because of the loss of continuity of the orbicularis oris muscle, which closes the mouth and purses the lips as in whistling.

Cleft Palate
Cleft palate, with or without cleft lip, occurs about once in 2500 births and is more common in females than in males.  The cleft may involve only the uvula, giving it a fishtail appearance, or it may extend through the soft and hard palates.  The embryological basis of cleft palate is failure of the mesenchymal masses of the lateral palatine processes to meet and fuse with each other, with the nasal septum, and/or with the posterior margin of the median palatine process, or primary palate.
 


Diagram of cleft lip and cleft palate


 


Wide Smiles
The Library in the Sky

Sources:
1. Journal of the American Dental Association. "Meeting the challenges of craniofacial-dental birth defects." Harold C.
Slavkin. May 1996 v127 n5 p681(2).
2. American Zoology. "Formation of the vertebrate face: differentiation and development." Robert M. Langille. Sept 1993
v33 n4 p462(10).
3. The Developing Human. 3rd ed.  Keith L. Moore.  W. B. Saunders Co., 1982.

 


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Last updated January 1998
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