We report two sisters (13-and 4-year-old) presenting with moderate intellectual disability, Dysmorphic facial Features, intermittent hematuria, proteinuria, and dental caries. Their parents and other family members were not affected. Whole-exome sequencing was performed to screen the underlying genetic cause. These patients have been analyzed using Next-Generation Sequencing (NGS) method and homozygote variant (c. 890delC) has been detected in the THOC6 gene. Direct Sanger sequencing confirmed that they are homozygote for the pathogenic variant mutations in the THOC6 gene, which is associated with Beaulieu-Boycott-Innes syndrome (BBIS). These patients also had proteinuria and subsequently developed hematuria. This is the first report of BBIS in association with proteinuria and hematuria without renal defects. Core clinical Features include low birth weight with subsequent growth failure, short stature, and intellectual disability with language delay, characteristic faces, cardiac defects, and renal anomalies. The possible pathophysiological mechanisms associated with proteinuria and transient hematuria without renal defects are discussed.

Background: In our country, nowadays, the number of people who are seeking cosmetic rhinoplasty surgery is increasing dramatically. These patients belong to a variety of socioeconomic statuses. Unfortunately, they do not always undergo a comprehensive psychiatric evaluation, especially in terms of body dismorphic disorders, which comprises a considerable percentage of disorders. Aim: In this study, psychiatric disorders, especially body dismorphic ones, were compared between people who are seeking cosmetic rhinoplasty surgery and those of people who are not. Methods: The cross-sectional study was conducted on 300 students of “Azad University” in Kerman in 2007. They completed SCL-90 (a standard questionnaire) including 90 multiple ranked choice questions, which assesses nine major measures, such as somatization, obsession, interpersonal sensitivity, depression, anxiety, hostility, phobia and paranoia disorders. The tw0-hundred and twenty-five cases (response rate = 225) were divided into two groups: the cases group, who were seeking cosmetic rhinoplasty (105 cases), and the controls (150 cases). The survey compared body dismorphic disorders and nine psychiatric measures in the cases with the normal people (the controls), according to the Scl-90 questionnaire. Results: Of the 255 people who were evaluated (169 females, 66.3%, and 86 males (33.7%), aged 21+ 2.6 years), 14 people suffered from body dismorphic disorders, yet there was not a significant difference between the cases and the control group (P= 0.07). the depression measure (15.73+10.91) and the phobia measure (4.85+4.36) ranked as the highest and the lowest levels of the disorders respectively. Noticeably, we found significant differences between all psychiatric measures between the cases and the controls except for the depression measure. Regarding severe disorder cases, most healthy interviewees fell in the phobic category (129 cases, 50.6%), while the somatization category comprised 39 cases (15.3%). As for non-healthy students suffering from severe disorders, 10 people were categorized in the psychosis group and one in the phobia, anxiety and depression category. In contrast to the healthy students (who were not evaluated as body Dysmorphic cases), non-healthy ones (body Dysmorphics) ranked the highest in all the nine psychiatric measures except for depression and paranoia disorders (P<0.05). In addition, all body Dysmorphic cases were scaled non-healthy in terms of obsession, psychosis and somatization measures. Conclusion: Although we could not find any significant body Dysmorphic differences between the cases and the controls (9.5 respectively), regarding higher rate of almost all nine psychiatric measures in the study people, seeking cosmetic surgery, we suggest a comprehensive standard psychiatric evaluation before rhinoplastic surgery.

Introduction: Tall stature is defined as length or height more than two standard deviations above the mean for age of the reference population. There are different causes of tall stature from a familial trait or a transient anticipation of growth with no major consequences to growth disorders, such as endocrine disorder and syndromic conditions like overgrowth syndromes. Case Presentation: In this study, we reported the case of a 7-year-old girl with tall stature from birth. The patient showed a generalized overgrowth, associated with extremely advanced bone age, Dysmorphic Features such as a broad foreheadandlarge extremities, and a slight neurodevelopmental delay. Laboratory tests were normal, and the main hormonal disorders were ruled out. The diagnosis of overgrowth syndrome was suspected according to the clinical presentation, and the diagnosis of Weaver syndrome was confirmed by the finding of the pathogenic mutation c.2050C > T p.(Arg684Cys) in EZH2 gene through next generation sequencing (NGS). Conclusions: Our patient showed phenotypical Features related to different overgrowth syndrome characteristics. We underlined the difficulties in reaching a clinical diagnosis in presence of tall stature. The role of molecular biology, particularly genetic analysis by NGS approach, should be considered in cases of tall stature with phenotypic overlap.