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Absent ulna in the Klippel‐Feil syndrome: an unusual associated malformation
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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.
Title: Absent ulna in the Klippel‐Feil syndrome: an unusual associated malformation
Description:
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.
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