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.
Brachydactyly ; Cranial Fontanelles ; Cryptorchidism ; Encephalocele* ; Forearm ; Humans ; Hypertelorism ; Male ; Mouth ; Nose ; Phenotype ; Protein-Tyrosine Kinases ; Skull*

PURPOSE: Cytomegalovirus (CMV) infection is mostly asymptomatic but can be detrimental to certain hosts. We investigated changes of CMV seroprevalence in Koreans before and after the year 2000. METHODS: We reviewed laboratory values of patients who were tested for CMV immunoglobulin G (IgG) at Samsung Medical Center, Seoul, Korea, from January 1995 to December 2015. Changes in seroprevalence were analyzed by gender, age, region, and tested year period (period 1, 1995–2005 vs. period 2, 2006–2015). RESULTS: Overall CMV seropositivity was 94.1% (10,900/11,584). There was no significant difference for CMV seropositivity among the two periods (94.2% vs. 94.1%) (P=0.862). CMV seropositivity in the 11 to 20-year age group in period 2 (78.8%) was significantly lower than that of period 1 (89.9%) (P=0.001). The seropositivity of individuals aged 31–40 years (97.4%) was significantly higher than that of younger age groups (P < 0.001) and lower than that of older age groups (P < 0.001). Of 2,441 females of reproductive age (from 15 to 49), CMV seropositivity was 97% (2,467/2,441). The seropositivity in women aged 20–24-years was higher than that of men in the same age group (97.6% vs. 85.6%, P=0.003). No significant difference was observed among different regions. CONCLUSIONS: Overall CMV seropositivity of Koreans was estimated to be 94% and the average seropositivity of reproductive women was 97%. Monitoring of the changes in seroprevalence including the reproductive age group is needed in the future.
Cytomegalovirus ; Female ; Humans ; Immunoglobulin G ; Korea ; Male ; Seoul ; Seroepidemiologic Studies