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Haspeslagh syndrome without severe mental retardation and pterygia?
Author(s) -
Bever Yolande,
Hennekam Raoul C. M.
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.tb04308.x
Subject(s) - camptodactyly , arachnodactyly , differential diagnosis , medicine , pediatrics , genetics , biology , pathology , anatomy , surgery , marfan syndrome
An adult female is described with mild developmental delay, typical facies, dental anomalies, arachnodactyly and camptodactyly. In many respects she resembles four other patients described earlier, but differs in not having multiple pterygia, nor severe mental retardation. We suggest that this entity should be named Haspeslagh syndrome. The differential diagnosis is discussed.