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<b><i>Introduction:</i></b> Mosaic variegated aneuploidy syndrome 2 (MVA2) and Noonan syndrome (NS) are 2 genetic disorders with overlapping clinical features, including intrauterine growth retardation, dysmorphic features, and heart defects. Whereas NS is a well-known congenital entity, MVA2 is rare, and only a few cases have been reported in the literature. <b><i>Case Presentation:</i></b> We report on the molecular findings in 3 patients with short stature phenotypes from the same family. By considering the clinical overlap between the patients, a common cause for the small stature was assumed in the beginning, but by whole exome analysis (WES) it turned out that the phenotypes were caused by different pathogenic variants in <i>CEP57</i> and <i>PTPN11</i>, respectively. As a result, both MVA2 and NS occurred in the same family. <b><i>Conclusion:</i></b> As our example shows, the parallel occurrence of pathogenic alterations in different genes in the same family constitutes a challenge for the interpretation of WES data and has to be considered. The diagnostic workup illustrates the need for a careful anamnesis and molecular documentation in affected and healthy family members. The knowledge on the different molecular causes underlying the features of the affected family members is the basis for personalised therapeutic managements and can avoid unnecessary burden and even contraindicated therapies; while in patients with NS carrying <i>PTPN11</i> variants growth hormone treatment leads to height increase, patients with MVA2 carrying <i>CEP57</i> probably do not benefit from it.

Purpose To investigate for the first time in Egypt and the Middle East the relationship between a specific gene and the presence of severely resorbed edentulous mandibular ridges in a sample of the Egyptian population. Materials and Methods The study was conducted on 50 subjects divided into case and control groups according to the residual ridge height. Saliva was used as a convenient source of DNA in the dental clinic. A certain genetic variation (1772C>T) in an important gene related to bone healing (hypoxia‐inducible factor‐1 alpha [HIF1‐α] gene) was selected. The genetic variation 1772C>T is a single nucleotide polymorphism (SNP) that occurs when corresponding sequences of DNA from different individuals differ at one base. Then, we have 2 forms of the gene (2 alleles): C and T. SNPs typically have 3 genotypes; in this study, they are the CC, CT, and TT genotypes. Polymerase chain reaction (PCR) restriction fragment length polymorphism (RFLP) was the method performed for genotyping. The statistical significance of the results was evaluated by the Chi‐square test and Fisher Exact test. Results A statistically significant difference in the distribution of the TT genotype between both groups was detected with p‐value = 0.049. There was also a difference in the distribution of the CC and CT genotypes, but it was not statistically significant, since the p‐values were 0.733 and 0.145, respectively. The T alleles were more abundant in the case group, while the control group showed more frequency of the C allele with no statistical significance. Conclusion The TT genotype of the 1772C>T polymorphism of HIF1‐α gene is related to the presence of severely atrophied residual ridges in completely edentulous Egyptians. This can be used as a marker to predict the future condition of the ridge using saliva samples. Further studies on larger scale are recommended.