Background Skeletal dysplasia is a heterogeneous group of disorders. Spondyloepiphyseal dysplasias comprise one subgroup. Deficiency of carbohydrate sulfotransferase 3 has been reported in a small number of patients with recessively inherited spondyloepiphyseal dysplasia with joint dislocation, short stature and scoliosis. We report here molecular and clinical findings of affected individuals in three consanguineous Pakistani families. Affected individuals in all three families had a uniform phenotype including severe short stature, multiple dislocated joints, progressive scoliosis and facial dysmorphism. Methods Clinical evaluation was done for three unrelated families. Radiological survey of bones was completed for patients from two of the families. Whole exome sequencing index patients from each family was performed followed by Sanger sequencing for validation of segregation of identified variants in respective families. In-silico analysis for determining pathogenicity of identified variants and conservation was done. Results Whole-exome sequencing revealed biallelic variants c.590 T > C;p.(Leu197Pro), c.603C > A;p.(Tyr201Ter) and c.661C > T;p.(Arg221Cys) in CHST3 (NM_004273.5) in the three families with eight, five and two affected individuals, respectively. Contrary to previous reports, affected individuals in none of the families exhibited a hearing loss. Conclusion We describe genotypic and phenotypic findings of three unrelated families with spondyloepiphyseal dysplasia. Our study confirms phenotypic variability and adds to the genotypic spectrum of spondyloepiphyseal dysplasia.

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Objectives: To observe the organic change occurs in dyspeptic patient by upper gastrointestinal endoscopy. Methods: The present prospective, observational, cross-sectional study was conducted at Medicine and Gastroenterology department of Sir Salimullah Medical College & Mitford Hospital, over a period of 6 month from 2019 to 2020.The study population was 200with aged18 years and above, irrespective of sex and who were suffering from dyspeptic symptoms for at least 6 months duration. Data regarding the demographic profile of study population nand endoscopic findings were processed and analyzed using software SPSS (Statistical Package for social science) version 26. Results: It was observed that most of the dyspeptic patients 71%were showing normal endoscopic findings and 29% have abnormal endoscopy findingwhere majority of the patient were 51 – 70 years of age.Out of them 41% of male and 26% of female had organic changes. It was also found that 46% of the patients were smoker and among them 34(37%) had abnormal endoscopic finding where 24(22%) non-smokerpatient had abnormal finding, which were statistically significant (p,0.05) between two group. Among abnormal endoscopic finding, 11% gastric erosions, 08% gastric ulcer, 04% duodenal erosions, 03% duodenal ulcer, 02% reflux oesophagitis, and carcinoma stomach rare 01%. Conclusion: The study concludes that majority of patients with complaints of dyspepsia have no organic lesion and can be considered non ulcer dyspepsia. The common abnormal endoscopic findings included gastric erosion and gastric ulcers relating to dyspepsia. The study findings also suggest that smoking is a risk factor for developing organic changes in dyspeptic patients specially in middle age group. Bangladesh J Medicine July 2022; 33(1) : 3-7