von Recklinghausen's disease

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Noun1.von Recklinghausen's disease - autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities
monogenic disease, monogenic disorder - an inherited disease controlled by a single pair of genes
autosomal dominant disease, autosomal dominant disorder - a disease caused by a dominant mutant gene on an autosome
Based on WordNet 3.0, Farlex clipart collection. © 2003-2012 Princeton University, Farlex Inc.
Translations

Von Recklinghausen's disease

n. enfermedad de Von Recklinghausen. V.: neurofibromatosis
English-Spanish Medical Dictionary © Farlex 2012
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References in periodicals archive
Presacral Schwannoma in a patient with von Recklinghausen's disease: case report.
Diffuse ganglioneuromatosis of the GI tract is associated with other tumors and syndromes, including PTEN hamartoma syndrome, MEN 2b, NF1 (von Recklinghausen's disease), and neurogenic sarcoma [16].
She had a known history of von Recklinghausen's disease with multiple cafe-au-lait spots.
Only patients with von Recklinghausen's disease have a stronger correlation with retroperitoneal schwannomas [2].
Double trouble: a case of von Recklinghausen's disease with coexistent lepromatous leprosy.
NF-1, also known as von Recklinghausen's disease, is an autosomal dominant genetic disease with an incidence of about 1 per 3500 births.
Personal and familial history was negative for von Recklinghausen's disease. Laboratory studies, including complete blood count, electrolytes, urinalysis, glycemia and hepatic profile, were normal except for a high level of serum creatinine and normocytic anemia secondary to chronic renal disease.
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