A Case of Robinow Syndrome(Fetal Face Syndrome) Associated with Cranium Bifidum / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 385-390, 2003.
Artigo
em Coreano
| WPRIM
| ID: wpr-107756
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Crânio
/
Proteínas Tirosina Quinases
/
Nariz
/
Criptorquidismo
/
Encefalocele
/
Fontanelas Cranianas
/
Braquidactilia
/
Antebraço
/
Hipertelorismo
Limite:
Humanos
/
Masculino
Idioma:
Coreano
Revista:
Journal of the Korean Child Neurology Society
Ano de publicação:
2003
Tipo de documento:
Artigo
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