Rare NF1 microdeletion syndrome in an Omani patient

An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion.

We report on a patient with NF1 microdeletion and clinical manifestations that fulfill the diagnostic criteria for neurofibromatosis type 1 but also presenting features reminiscent of Proteus syndrome.

Visceral leishmaniasis and haemophagocytic syndrome in an Omani child.

The paper reports the case of a previously healthy 4-year-old-girl who presented with pallor, fever and hepatosplenomegaly. Laboratory findings included pancytopenia, hypertriglyceridemia and hyperferritinemia. Initial diagnosis of kala-azar could not be confirmed because of the absence of clinical evidence, negativity of bone marrow aspiration or specific serology for visceral leishmaniasis. R...

Chromosome 15q24 microdeletion syndrome

Chromosome 15q24 microdeletion syndrome is a recently described rare microdeletion syndrome that has been reported in 19 individuals. It is characterized by growth retardation, intellectual disability, and distinct facial features including long face with high anterior hairline, hypertelorism, epicanthal folds, downslanting palpebral fissures, sparse and broad medial eyebrows, broad and/or depr...

Investigation Into the Role of C17orf79/COPR5 in E2F/DP Target Gene Overexpression in NF1 Microdeletion Syndrome

Torticollis in 15q11.2 Microdeletion Syndrome: a Rare Association in Angelman-like Syndromes

15q11-13 chromosome region contains five breakpoints (BP1-BP5). Chromosomal rearrangements are common in this region. The microdeletion of BP1-BP2 region represents the 15q11.2 microdeletion syndrome associating with variable phenotype. We investigated a ten years old boy with hypotony. His motoric functions, speech and intellectual development were delayed. He suffered from epilepsy and showed...