نتایج جستجو برای: neurocutaneous syndrome

تعداد نتایج: 622208  

Journal: :iranian journal of child neurology 0
ambey ravi assistant professor, department of pediatrics, gajraraja medical college and kamlaraja hospital, gwalior, madhyapradesh, india doddamani veerabhadra postgraduate student, department of pediatrics, gajraraja medical college and kamlaraja hospital, gwalior, madhyapradesh, india gupta richa senior resident, department of pediatrics, gajraraja medical college and kamlaraja hospital, gwalior, madhyapradesh, india sonamani ngangbam postgraduate student, department of pediatrics, gajraraja medical college and kamlaraja hospital, gwalior, madhyapradesh, india

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...

Journal: :Journal of clinical and diagnostic research : JCDR 2013
Bhuvana Krishnamoorthy Parul Singh Suma N Gundareddy Manisha Lakhanpal Sharma Manu Dhillon

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...

2017

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 ...

Journal: :Journal of Pediatric Genetics 2015

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