(Cleft lip-palate and congenital lip pits syndrome is a group of syndromes characterized by congenital lower lip depression, cleft lip, and/or cleft palate.
[Demarquay syndrome; Demarquay Richet syndrome; cleft lip-palate and paramedian sinuses of the lower lip syndrome.
[Etiology] Autosomal dominant, with an ectopic rate of 80% and an incidence of approximately 1 per 100,000 live births.
[Pathology] The lower lip recess is a blind fistula that passes down through the orbicularis oris muscle, some even reaching the submucosa of the mandibular gingiva.
[Clinical manifestations] Lower lip depression: mostly occurs in the red part of the lower lip, bilaterally symmetrical, or asymmetrical or only a single depression, which is rounded or transverse, with different sizes of inner diameter, and is a blind sinus, which can flow mucous saliva by squeezing the mouth of the lower sinus. The depressions may also occur at the corners of the mouth, upper lip, and labial ligament. Cleft lip and/or palate: About 1/3 of patients have only depression, while 2/3 of patients have concurrent cleft lip and/or palate. Other malformations: including maxillary and mandibular adhesions, slapped fossa pterygium, congenital heart disease, and genitourinary tract anomalies.
[Diagnosis] It is not difficult to make a diagnosis based on the clinical presentation.
[Treatment] Excision of the labial sinus and repair of cleft lip and palate. Note that the mucous glands opening in the sinus tract should be removed as well.
[Prognosis] Good, no risk of death.