Cervical vertebral fusion (Klippel Feil) syndrome with consanguineous parents

Abstract

The authors describe a female infant with the cervical vertebral fusion (Klippel Feil) syndrome whom they recognized at birth because of her short neck, restriction of cervical movement, and low posterior hairline. X ray examination showed anomalies of C1, and between C2 - 3 and C3 - 4; thus, they classified her as type II, with variable cervical fusion. At 24 months she was small and manifested hearing deficiency. The mother and father were consanguineous with five common ancestors four generations ago, which resulted in a coefficient of inbreeding equivalent to a second cousin relationship. The parents and grandparents were phenotypically normal, and the parents were radiologically normal. This form of the syndrome has previously been said to be autosomal dominant. Their conclusion of determination by a single autosomal recessive gene is evidence of genetic heterogeneity.