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Variable expression of the popliteal pterygium syndrome in two 3‐generation families
Author(s) -
Soekarman D.,
Cobben J. M.,
Vogels A.,
Spauwen P. H.,
Fryns J. P.
Publication year - 1995
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.1399-0004.1995.tb03954.x
Subject(s) - variable expression , pterygium , differential diagnosis , medicine , genetics , pathology , ophthalmology , biology , gene
Three successive generations in two families affected with the popliteal pterygium syndrome are reported. While expression of the syndrome was relatively mild in the first and second generation, the patients in the third generation showed the full‐blown syndrome. Differential diagnosis between mildly affected patients with the popliteal pterygium syndrome and those with Van der Woude syndrome is difficult and may even be impossible. The present observations further support the hypothesis that both syndromes may in fact represent variants of the same condition.