نتایج جستجو برای: neurocutaneous syndrome
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how to cite this article: ravi a, veerabhadra d, richa g, ngangbam s. a rare occurrence of shagreen patch on the face of apediatric patient with tuberous sclerosis. iranian journal of child neurology 2012;6(1):39-42. tuberous sclerosis is a neurocutaneous syndrome characterized by a clinical spectrum varying from severe mental retardation and incapacitating seizures to normal intelligence and l...
Neurofibromatosis Type I (NFI) is a relatively common hereditary, autosomal dominant neurocutaneous condition. It is a benign peripheral nerve sheath tumour arising from Schwann cells and peripheral fibroblasts. Even though it is a neurocutaneous disorder, NF I has significant skeletal manifestations. Oral and maxillofacial skeletal structures are also often involved in the form of deepening of...
Waardenburg syndrome was first reported by van der Hoeve in 1916. In 1951, Waardenburg defined 6 main features: (1) dystopia canthorum, (2) prominent broad nasal root, (3) synophrys, (4) white forelock, (5) heterochromia iridis, and (6) congenital deaf-mutism. Four types of Waardenburg syndrome have now been delineated on the basis of clinical and genetic criteria. The molecular defective gene ...
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