Oral-facial-digital syndrome type IV (Mohr-Majewski syndrome): a fetopathological study

We present a 22-week male fetus with cleft lip and palate, lobulated tongue, talipes equinovarus, and polysyndactyly. In addition there was skeletal dysplasia with micromelia and short ribs. Autopsy revealed a cardiac anomaly (perimembranous VSD), very incomplete lobation of the lungs, mild congenital hepatic fibrosis, and segmental renal cystic dysplasia. Brain anomalies included internal hydrocephalus, olfactory aplasia, and agenesis of the corpus callosum. This constellation of multiple congenital anomalies is consistent with the oral-facial-digital syndrome (OFDS) type IV. OFDS type IV may be a heterogeneous condition. Our pathological findings confirm that at least some of these cases a transitional phenotype between OFDS type II (Mohr syndrome) and short rib polydactyly syndrome type II (Majewski syndrome).