Fetal Akinesia Syndrome, X-Linked
Holmes et al. (1997) reported male sibs with a possibly X-linked form of fetal akinesia syndrome. One sib died at 11 weeks of age and other sib was stillborn. In both, the pregnancies were characterized by polyhydramnios and hypokinesia. Both had brain malformations (absence of corpus callosum in one; arhinencephaly in the other), telecanthus, and narrow palpebral fissures. (See holoprosencephaly with fetal akinesia/hypokinesia sequence (306990).) Only affected male sibs were described in several reports: Mease et al. (1976), MacMillan et al. (1985), Lammer et al. (1989), Gyr et al. (1992). This led Holmes et al. (1997) to suggest that there is an X-linked form of fetal akinesia syndrome(s). Also see fetal akinesia deformation sequence (208150).