Familial occurrence of syngnathia congenita syndrome.
A case of familial occurrence of syngnathia congenita in mother and child is described; this syndrome has been seen only sporadically until now. Due to the distinct appearance of the intraoral chords--they were situated on both sides between the ridges of the jaw and also between the left half of the bifid uvula and the retrolingual region--a relationship to the autosomal-dominantly transmitted Cleft Palate Lateral Synechiae Syndrome (CPLS-Syndrome) is suspected. Complete penetrance with different expressivity may explain the different clinical manifestations of the cases seen up to now and the absence of bifid uvula in the mother of our patient. The probable pathogenesis during embryological development is discussed.
D000328:Adult; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009056:Mouth Abnormalities / Q000235:genetics*; D009061:Mouth Mucosa / Q000002:abnormalities; D013577:Syndrome; D000267:Tissue Adhesions