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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