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Journal of the Korean Child Neurology Society 2003;11(2):385-390.
Published online November 30, 2003.
A Case of Robinow Syndrome(Fetal Face Syndrome) Associated with Cranium Bifidum.
Ki Eun Kim, Tai Young Ham, Doo Choel Kang, Chang Jun Coe, Joon Soo Lee
1Department of Pediatrics, Yonsei University, College of Medicine, Seoul, Korea. joonsl96@yumc.yonsei.ac.kr
2Handicaped Children Center, Yonsei University, College of Medicine, Seoul, Korea.
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.
Key Words: Robinow syndrome, Fetal face syndrome, Forearm shortening, Cranium bifidum


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