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KMID : 0391520030110020385
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Journal of the Korean Child Neurology Society
2003 Volume.11 No. 2 p.385 ~ p.390
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A Case of Robinow Syndrome(Fetal Face Syndrome) Associated with Cranium Bifidum.
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Kim Ki-Eun
Ham Tai-Young
Kang Doo-Choel
Coe Chang-Jun
Lee Joon-Soo
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Abstract
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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.
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KEYWORD
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Robinow syndrome, Fetal face syndrome, Foream shortening, Cranium bifidum
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