Fraser syndrome: Phenotypic variability and unusual findings in four Egyptian families

Background and aim: Fraser syndrome [FS] is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal malformations and urogenital defects. It may be also associated with ear, nose and skeletal abnormalities. There is a marked interfamilial clinical variability. However, there is strong phenotypic similarity and concordance of the degree of severity of the disease within a family. Our aim was to report new cases of FS from the Egyptian population

Patients and methods: The study was carried out on 6 new cases of FS from four Egyptian families. All patients satisfied the diagnostic criteria for FS

Results: Cryptophthalmos and ambiguous genitalia were each present in 5/6 of the studied cases, while syndactyly and urinary tract abnormalities were found in 4/6 of them. Nasal anomalies, sclerocornea and abnormal hair growth pattern were constant features observed in 100% of the cases. The frequency of additional anomalies in our series was also higher than those previously reported as umbilical abnormalities and contractures of large joints

Conclusion: In conclusion, our findings add further evidence for the clinical variability associated with FS. The studied cases showed inconsistent compatibility with life and variable expressions in prenatal sonographic findings and postnatal clinical manifestations

Ghrelin arg Arg5 1Gln polymorphism in Egyptian patients with type II diabetes mellitus

Ghrelin is a peptide hormone known to play a role in glucose homeostasis; therefore functional variants of the human ghrelin gene could contribute to the genetic susceptibility to diabetes or may modulate some aspects of the glucose intolerance phenotype. The study aimed at investigating the differences in the frequencies of Arg51Gln polymorphisms among Egyptian patients with type II diabetes and healthy control subjects and at verifying whether this polymorphism could influence the diabetes phenotype. One-hundred-four Egyptian type II diabetic patients attending the Medical Research Institute were enrolled into the study. Clinical data concerning medical and family history were collected by a clinical interview. Another group of 100 non-diabetic apparently healthy subjects were included to compare the Arg51Gln genotypes frequencies. The ghrelin Arg51Gln polymorphism was studied by PCR restriction fragment length polymorphism method in the diabetic and control subjects. The metabolic profile of the diabetic patients was also analyzed. A chi[2] test was adopted to compare the ghrelin Arg51Gln genotype and allele frequencies among the two groups. Moreover, in order to test whether the differences in phenotypic variables between the patient groups were influenced by ghrelin genotype, ANOVA test was performed. The frequency of the 51 gln heterozygotes and homozygotes were significantly higher in the patients group than in the control sample [chi[2] =8.962, P= 0.0113]. Also, the 51 Gln allele frequency was higher in the patients than in the control group [q=0.27 and q=0.14, respectively]; a difference that was found statistically significant [chi[2] =5.185, P = 0.022]. The fasting blood sugar and triglycerides levels were higher in patients carrying the ghrelin 51 Gln allele than in those with the wild allele [statistically significant, P=0.014 and p=0.004, respectively]. No statistically significant difference was observed between the total cholesterol, HDL and LDL cholesterol concentrations among these two groups. There is a significant positive association between ghrelin 51 Gln polymorphism and type II diabetes in the Egyptian population. Further studies are warranted to elucidate the role of ghrelin in the development of this disease