Background: Pseudo-Pendred syndrome (PPS) is a genetic disorder inherited as an autosomal recessive disorder. PPS characterized by the presence of hypothyroid goiter combined with mild to moderate form SNHL, not presentable at birth, no obvious inner ear malformation. This major difference from Pendred in which SNHL congenital, severe profound nature, and associated malformation, mostly enlarge...

Face recognition is considered as an important phenomenon in our everyday life. In 19th century cognitive science got introduced with a new term ‘prosopagnosia’ (face disorder) for the first time by Joachim Bodmer. The derived from Greek word prosopon (face) and gnosis (knowledge), refers to condition which was observed consequence of brain lesions (acquired prosopagnosia). Initially it believe...

Ellis-Van Creveld syndrome is a very rare congenital disorder which its principal features are polysyndactyly, chondrodysplasia, cardiac abnormalities and ectodermal dysplasia. We report a 10-year-old girl with major manifestations of this syndrome who also had multiple brownish macules and patches on trunk and extremities with aortic and pulmonary stenosis in echocardiographic evaluations.

Cerebrospinal fluid (CSF) leakage otorrhea may be congenital or can be caused by trauma, surgery, cholesteatoma, and tumors. Spontaneous CSF leakage through the middle ear without a secondary cause is a relatively rare disease. The pathophysiology of CSF otorrhea has not been clear yet. However, there are two theories of the pathophysiology of spontaneous CSF otorrhea have been studied in the m...

Mutations in DPAGT1 are a newly recognised cause of congenital myasthenic syndrome. DPAGT1 encodes an early component of the N-linked glycosylation pathway. Initially mutations in DPAGT1 have been associated with the onset of the severe multisystem disorder - congenital disorder of glycosylation type 1J. However, recently it was established that certain mutations in this gene can cause symptoms...