A Case of Robinow Syndrome(Fetal Face Syndrome) Associated with Cranium Bifidum / 대한소아신경학회지

ABSTRACT

Robinow syndrome is a rare inherited disorder initially reported by Robinow et al. in 1969 as a new dwarfing syndrome. It is characterized by the presence of fetal face, forearm shortening, genital hypoplasia, and hemivertebrae. The autosomal recessive form of Robinow syndrome shows a more severe clinical phenotype which is expressed by the mutation of homozygous ROR2(Receptor tyrosine kinase like Orphans) gene, mapped to the chromosome 9q22, a region that overlaps the locus for autosomal dominant inherited brachydactyly type B(BDB). ROR2 encodes the receptor tyrosine kinase, which is important for the development of mesomelic long bones. We experienced a boy diagnosed as a Robinow syndrome with fetal face(frontal bossing, hypertelorism, small up-turned nose, triangular mouth with down turned angles, micrognathia), large anterior fontanelle, cranium bifidum, mesomelic shortening, cryptorchidism. We present this case with a brief review of related literature.