Congenital Cervical Synostosis(Klippel-Feil's Syndrome) Four cases

Klippel‐Feil syndrome in a boy exposed inadvertently to cyclophosphamide during pregnancy: A case report

“…Both autosomal dominant (KFS1, OMIM 118100; Bauman,1932; Clemmesen,1936; Bizarro,1938; Erskine,1946) and autosomal recessive (KFS2, OMIM 214300) forms of KFS have been reported (Juberg and Gershanik,1976; Da Silva,1982). Nevertheless, most cases are sporadic, and the heterogeneity seen in patients with KFS has been suggested to result from disruption of single genes, from complex interactions between multiple genes, or from gene‐environment interactions (Tracy et al,2004).…”