Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene – a case report

A case report of beckwith-wiedemann syndrome

beckwith and wiedemann for the first time described a syndrome characterised by macroglossia,macrosomia and omphalocele.nowadays inaddition to the above symptoms,visceromegaly,mild microcephaly,facial nevus flammeus,earlobe cerase,persistent neonatal hypoglycemia,and polycythemia are also considered various manifestations of Beckwith-Wiedemann syndrome. This study report a female neonate with ...

A de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian Failure

Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report

Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations...

A case report of variant scimitar syndrome

Background: Scimitar syndrome (SS) or congenital pulmonary venolobar syndrome is a rare anomaly, most commonly including partial pulmonary venous drainage into the inferior vena cava, right lung hypoplasia, dextroposition of the heart, and anomalous systemic arterial supply from aorta or one of its branches to the right lung. Case report: A 10-day-old female infant was referred to our hospital...

Sagliker Syndrome in a Patient with Secondary Hyperparathyroidism and Chronic Renal Insufficiency: A Case Report

Sagliker syndrome is a rare form of renal osteodystrophy resulted from untreated secondary hyperparathyroidism. It is described by severe skeletal deformities, high level of PTH in patients with chronic renal failure, and deformed face. This paper reports a 44-year-old male patient with the mentioned characteristics. In addition to the unique clinical features, high levels of ALP and PTH hormon...