Open AccessJournal Article
Noonan phenotype in the basal cell nevus syndrome.
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TL;DR: A three-generation family in which five members present the basal cell nevus syndrome supports the theory that the autosomal dominant mutation causing the neural crest dysplasia may lead to a Noonan-like phenotype.
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Abstract: In this report we present a three-generation family in which five members present the basal cell nevus syndrome In three of them a Noonan phenotype was present The basal cell nervus syndrome is another example of a neural crest dysplasia associated with a Noonan-like phenotype This observation supports the theory that the autosomal dominant mutation causing the neural crest dysplasia may lead to a Noonan-like phenotype
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Citations
Nevoid basal cell carcinoma syndrome.
TL;DR: The independent observations of increased prostaglandin levels associated with odontogenic keratocyst expansion and aggression of basal cell cancers merit further investigation both as a fundamental cellular mechanism and as a possible basis for treatment (e.g., with antiprostaglandins).
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Noonan syndrome associated with central giant cell granuloma.
TL;DR: This case report describes a patient with the features of the recently described Noonan‐like/multiple giant cell lesion syndrome with the chief complaint of proptosis of the right eye.
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Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome.
TL;DR: The ichthyosis and ocular albinism in the present case are likely to be of the autosomal recessive type’s very rare association’– and the combination with Noonan syndrome has not been reported previously.
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