CME The Spectrum of Orofacial Clefting
نویسندگان
چکیده
Learning Objectives: After studying this article, the participant should be able to: 1. Describe the differing types of congenital clefting defects that extend outward from the perioral region. 2. Define the sites of anatomical disruption and deformities that these types of facial clefts cause. 3. Describe the cause and incidence, if known, of orofacial clefts and their inheritance/transmission risks.
منابع مشابه
Orofacial clefting: recent insights into a complex trait.
Orofacial clefts are common birth defects of multifactorial etiology. Several novel approaches have recently been applied to investigate the causes of clefts. These include examining Mendelian forms of clefting to identify genes that might also be implicated in isolated clefting, analyzing chromosomal rearrangements in which clefting is part of the resultant phenotype, studying animal models in...
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OBJECTIVE To define the intrinsic (hypoplasia) and extrinsic (deformational) contributions to congenital nasal deformities and the potential of a carrier state for orofacial clefting. METHODS Retrospective case series. RESULTS The factors affecting 4 congenital nasal deformities are postulated after contrasting the patient's characteristics. CONCLUSIONS The spectrum of congenital nasal de...
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BACKGROUND Cleft lip with or without cleft palate (CL(P)) and isolated cleft palate (CP) are separate clinical entities and for both polygenic multifactorial aetiology has been proposed. Parents of children with orofacial clefting have been shown to have distinctive differences in their facial shape when compared to matched controls. OBJECTIVE To test the hypothesis that genetic and morphomet...
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Craniofacial development consists of a highly complex sequence of the orchestrated growth and fusion of facial processes. It is also known that craniofacial abnormalities can be detected in 1/3 of all patients with congenital diseases. Within the various craniofacial abnormalities, orofacial clefting is one of the most common phenotypic outcomes associated with retarded facial growth or fusion....
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Orofacial clefts are among the most common birth defects and result in an improper formation of the mouth or the roof of the mouth. Monosomy of the distal aspect of human chromosome 6p has been recognized as causative in congenital malformations affecting the brain and cranial skeleton including orofacial clefts. Among the genes located in this region is PAK1IP1, which encodes a nucleolar facto...
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