Interlink of Two Syndromes - Demarquay-van der Woude and Popliteal Pterygium in One Family Group
Although Demarquay first described the Fistula
labia inferioris congenua in 1845, Van der Woude reviewed these features and established a
relationship between lower lip pits and cleft lip or palate. Demarquay-van derWoude Syndrome (DVWS) (OMIM 119300) is an autosomal dominant condition that
affects embryologic facial development and is characterized by the usual two
labial pits (fistulae) or elevations in the lower lip, cleft lip with or
without cleft palate.
Dental agenesis is seldom. Lip pits or sinuses are
usually symmetrically and bilaterally located on the vermilion portion of the
lower lip on either side of the midline. They are less unilaterally, medially
or bilaterally asymmetrical.
The sinuses penetrate the orbicularis oris muscle
and mostly communicate with the underlying minor salivary glands, and are
usually asymptomatic with intermittent or continuous drainage of watery or
salivary secretions. Hypotonia of the muscles of the lower lip has also been
described in DVWS, leading some authors to suggest the existence of real
central lip dysplasia. Read more>>>>>>>>>
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