Tuberous sclerosis complex Syndrome (TSCs) is an autosomal dominant disorder affecting multiple organs; caused by mutations of either the TSC1 or TSC2 gene encoding hamartin and tuberin respectively. It is characterized by the development of benign tumours affecting different body systems. The most common visible manifestations of TSC are facial angiofibromas and the formation of hamartomas in ...

Chromosome 22q11.2 deletion syndrome, or DiGeorge syndrome, or velocardiofacial syndrome, is one of the most common multiple anomaly syndromes in humans. This syndrome is commonly caused by a microdelection from chromosome 22 at band q11.2. Although this genetic disorder may reflect several clinical abnormalities and different degrees of organ commitment, the clinical features that have driven ...

objective: the purpose of the present study was to examine the impact of premenstrual symptoms on health related quality of life (hrqol) in a sample of iranian women. methods: in this cross-sectional study, a sample of women aged 15–45 years, who lived in tehran were randomly recruited according to demographic questionnaire. for diagnosing the premenstrual dysphoric disorder and premenstrual sy...

This case concerns a 17-year-old boy, who was given the diagnosis of Alpers syndrome only postmortem when a homozygous 1399G-->A (A467T) mutation was found in the linker-region of POLG1. Serial muscle and liver biopsies as well as brain MRI scans in our patient ranging from early childhood to postmortem analyses showed that (i) routine diagnostic procedures can be normal in the early stage of t...

Downs syndrome constitutes to be the most common chromosomal disorder. Patients with Downs's syndrome are posted for several surgeries including dental procedures and even for facial reconstruction. They are associated with several congenital anomalies in different organ system. There is also increased incidence of atlanto axial instability and risk of spinal cord injury. These children are sus...

Costello syndrome (CS) is a rare genetic disorder caused by heterozygous germline Harvey rat sarcoma viral oncogene homolog (HRAS) gene mutations, and characterized by multi-system organ abnormalities. Associated craniofacial, cardiac, neurologic and musculoskeletal abnormalities may pose speci ic anesthetic challenges. Careful pre-anesthetic evaluation and planning is therefore essential to en...

We report the onset of pure red cell aplasia (PRCA) in a patient with a history of polyglandular syndrome including Addison's disease, malabsorption syndrome, diabetes type I and gastric hyperplastic polyposis. An autoimmune origin for this complex disorder was not supported by the presence of organ specific antibodies, but T cells were found to be of polyclonal origin, as demonstrated by molec...

Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) (BRWS; MIM #243310, 614583) is a rare developmental disorder affecting multiple organ systems. It is characterised by intellectual disability (mild to severe) and distinctive facial appearance (metopic ridging/trigonocephaly, bilateral ptosis, hypertelorism). The additional presence of cortical malformations (pachygyria/lissencephaly) and oc...

Irritable bowel syndrome is a highly prevalent gastrointestinal disorder that threatens the quality of life of millions and poses a substantial financial burden on healthcare systems around the world. Intense research into the human microbiome has led to fascinating discoveries which directly and indirectly implicate the diversity and function of this occult organ in irritable bowel syndrome (I...

Gorlin-Goltz syndrome is a rare autosomal dominant disorder that involves multiple organ systems, including the skin, skeleton and jaws. We report a case of young female with multiple odontogenic keratocysts, high arched palate, euryopia, palmer pits, solitary, pigmented nevus , areas of hyper-pigmentation in the upper eyelid of left eye, dorsal surface of hands, calcified diaphragma sellae, ri...