Rare Types of Turner Syndrome: Clinical Presentation and Cytogenetics in Five Cases

Comparison of classical cytogenetics versus interphase FISH in diagnosis of mosaic form of Turner syndrome

 Abstract  Background: Mosaic form of turner syndrome that represented by two or more  cell lines in an affected individual, often has limitation for detection with classical  cytogenetic methods. The present study was carried out to compare the efficiency of  interphase Fluorescence In Situ Hybridisation (FISH) and cytogenetic techniques in  detection of mosaic form of turner syndrome.  Method...

Sheehan’s syndrome presenting as psychosis: a rare clinical presentation

 Sheehan’s syndrome (SS) refers to the occurrence of varying degree of hypopituitarism after parturition (1). It is a rare cause of hypopituitarism in developed countries owing to advances in obstetric care and its frequency is decreasing worldwide. However, it is still frequent in underdeveloped and developing countries. Sheehan’s syndrome is often diagnosed late as it evolves slowly (2,3). Re...

Neurofibroma: Report of a rare clinical presentation

Neurofibroma is a tumor composed of a complex proliferation of neuromesenchymal tissue (Schwann cells, perineural cells, fibroblast, and mast cells). We report a 45-year-old female who had a slow growing, large, soft, pedunculated mass on her left lateral neck. A skin biopsy confirmed the diagnosis of neurofibroma.

Osteoblastoma of Mandible:A Rare Clinical Presentation

Rare Presentation of Neurofibromatosis and Turner Syndrome in a Pediatric Patient

Neurofibromatosis type 1 (NF1) is classically defined by the presence of multiple café-au-lait macules as one of the diagnostic criteria. Turner syndrome (TS) can also present with café-au-lait macules along with short stature. Our patient is the fifth reported with both NF1 and TS and the first who has been on growth hormone for short stature associated with TS.