Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation.

摘要

Mutations in ANKH have been associated with craniometaphyseal dysplasia (CMD) in some families [Niirnberg et al., 2001; Reichenberger et al., 2001] and with familial chondrocalcinosis (CCAL2) in others [Pendleton et al., 2002; Williams et al., 2003]. We report on the first family with an ANKH mutation in which these conditions cosegregated in some affected family members to promote awareness of the possibility that individuals with CMD might have associated chondrocalcinosis.