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van der Woude syndrome in two families in China.
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1987
Year
Developmental AnomalyMendelian DisorderGenetic DisorderGeneticsPathogenesisGenetic EpidemiologyPediatricsCongenital DisordersPathologyCraniofacial AnomaliesBeijing AreaMolecular GeneticsCleft PalatePrevalenceNeuropathologyMedicineUnrelated FamiliesCleft Lip
We report on two unrelated families from the Beijing area in which the autosomal dominant gene for van der Woude syndrome (VWS) is segregating. The clinical features include paramedian lower lip pits (fistula labii inferioris congenita), cleft palate, and cleft lip with or without cleft palate. All three of the clinical features may occur together in an affected individual, or any two together, or any one as a single feature of an individual who carries the gene. The probands in each of our families also have ankyloglossia. This is the first report of VWS from China.