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Radial ray defects and associated anomalies
Author(s) -
Cox H.,
Viljoen D.,
Versfeld G.,
Beighton P.
Publication year - 1989
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.1399-0004.1989.tb02952.x
Subject(s) - choanal atresia , fanconi anemia , medicine , pediatrics , atresia , intellectual disability , genetics , surgery , biology , psychiatry , dna repair , gene
In a series of 34 patients with defects of the radial ray, 24 individuals had additional clinical manifestations. A firm syndromic diagnosis could be reached in 17 persons (TAR syndrome 4, Holt‐Oram syndrome 8, Fanconi anaemia 2, VATER association 2, Radial ray‐choanal atresia 1). In the remainder, no specific diagnosis could be established. The heterogeneity of radial ray syndromes has important implications for prognostication and genetic counselling.