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

Kim,  Ki Eun; Ham,  Tai Young; Kang,  Doo Choel; Coe,  Chang Jun; Lee,  Joon Soo

Case Report

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.

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.

Key Words: Robinow syndrome, Fetal face syndrome, Forearm shortening, Cranium bifidum