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Absent ulna in the Klippel‐Feil syndrome: an unusual associated malformation
Author(s) -
Chemke J.,
Nisani R.,
Fischel R. E.
Publication year - 1980
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.1399-0004.1980.tb00127.x
Subject(s) - klippel–feil syndrome , medicine , dysostosis , ulna , anatomy , prenatal diagnosis , surgery , fetus , biology , pregnancy , congenital disease , genetics
A patient is reported with a severe type 2 Klippel‐Feil syndrome, and absent ulna and ulnar ray. The severity of the musculo‐skeletal involvement did not allow for corrective procedures. This uncommon association of skeletal malformations has not been previously reported. Since this syndrome has been described in families as a possible autosomal recessive trait, a 25 % recurrence risk and the possibility of prenatal detection by fetal visualization methods should be taken into consideration.