Mohr syndrome in two sisters: Prenatal diagnosis in a 22-week-old fetus with post-mortem findings in both

Oral-facial-digital syndrome type II (OFP syndrome II; orofaciodigital synd rome II) is a rare autosomal recessive syndrome, first described by Mohr (1 941). We present two sisters with Mohr syndrome from a consanguineous famil y. One is a three-day-old female patient, the other is 22-week-old fetus. P olydactyly with bifid thumbs in both hands, bilateral polysyndactyly of hal luces, lateral polysyndactyly and bilateral pes equinovarus were demonstrat ed in the fetus sonographically. Corpus callosum agenesis, congenital heart disease, bilateral bifid thumbs and halluces and polydactyly were seen in both patients. In addition, post-mortem findings showed absence of olfactor y nerve, single atrium, VSD, abnormal lung lobulation and natal teeth in th e fetus. Absence of olfactory nerve and natal teeth have not been reported previously in Mohr syndrome. Copyright (C) 1999 John Wiley & Sons, Ltd.