A Case of Robinow Syndrome(Fetal Face Syndrome) Associated with Cranium Bifidum / 대한소아신경학회지
Journal of the Korean Child Neurology Society
; (4): 385-390, 2003.
Article
Dans Ko
| WPRIM
| ID: wpr-107756
Responsable en Bibliothèque :
WPRO
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.
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Phénotype
/
Crâne
/
Protein-tyrosine kinases
/
Nez
/
Cryptorchidie
/
Encéphalocèle
/
Fontanelles crâniennes
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Brachydactylie
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Avant-bras
/
Hypertélorisme
Limites du sujet:
Humans
/
Male
langue:
Ko
Texte intégral:
Journal of the Korean Child Neurology Society
Année:
2003
Type:
Article