A Case of Robinow Syndrome(Fetal Face Syndrome) Associated with Cranium Bifidum.
- Author:
Ki Eun KIM
1
;
Tai Young HAM
;
Doo Choel KANG
;
Chang Jun COE
;
Joon Soo LEE
Author Information
1. Department of Pediatrics, Yonsei University, College of Medicine, Seoul, Korea. joonsl96@yumc.yonsei.ac.kr
- Publication Type:Case Report
- Keywords:
Robinow syndrome;
Fetal face syndrome;
Forearm shortening;
Cranium bifidum
- MeSH:
Brachydactyly;
Cranial Fontanelles;
Cryptorchidism;
Encephalocele*;
Forearm;
Humans;
Hypertelorism;
Male;
Mouth;
Nose;
Phenotype;
Protein-Tyrosine Kinases;
Skull*
- From:
Journal of the Korean Child Neurology Society
2003;11(2):385-390
- CountryRepublic of Korea
- Language:Korean
-
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.
