Abstract
Ablepharon syndrome is an extremely rare genetic problem that causes severe craniofacial deformities and numerous other abnormalities of the face, genitalia, and skin. The literature regarding this condition is scarce. We present a case of this syndrome with dental manifestations, not reported before, and discuss its characteristics in order to increase the knowledge of this condition among the dental profession.
Highlights
Ablepharon macrostomia syndrome (AMS) is an extremely rare and disfiguring condition, characterized by numerous signs and symptoms
AMS has been reported to be an autosomal recessive entity, and it has been suggested that the gene maps to 18q [1]
In 1977 McCarthy and West [4] reported two cases of a rare syndrome characterized by numerous manifestations such as triangular facies, hypertelorism, sparse thin hair, absence of eyelids, eyebrows, and eyelashes, eye abnormalities, and dry skin
Summary
Ablepharon syndrome is an extremely rare genetic problem that causes severe craniofacial deformities and numerous other abnormalities of the face, genitalia, and skin. The literature regarding this condition is scarce. We present a case of this syndrome with dental manifestations, not reported before, and discuss its characteristics in order to increase the knowledge of this condition among the dental profession
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