A new lethal syndrome of exomphalos, short limbs, and macrogonadism

We report a new lethal multiple congenital abnormality (MCA) syndrome of ex omphalos, short limbs, nuchal web, macrogonadism, and facial dysmorphism in seven fetuses (six males and one female) belonging to three unrelated fami lies. X rays showed enlarged and irregular metaphyses with a heterogeneous pattern of mineralisation of the long bones. Pathological examination showe d adrenal cytomegaly, hyperplasia of Leydig cells, ovarian stroma cells, an d Langherans cells, and renal microcysts. We suggest that this condition is a new autosomal recessive MCA syndrome different from Beckwith-Wiedemann s yndrome, especially as no infracytogenetic deletion or uniparental disomy o f chromosome 11 was found.