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Familial occurrence of syngnathia congenita syndrome
Author(s) -
Gassner I.,
Müller W.,
Rössler H.,
Kofler J.,
Mitterstieler G.
Publication year - 1979
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1979.tb00974.x
Subject(s) - penetrance , expressivity , medicine , anatomy , congenital disease , biology , genetics , surgery , phenotype , gene
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.