Failure in Implant Rehabilitation in a Patient With Severe Congenital Neutropenia (Kostmann Syndrome)

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Laryngeal stenosis in a patient with severe congenital neutropenia.

OBJECTIVES/HYPOTHESIS We report the first case of laryngeal stenosis with granuloma in a patient with severe congenital neutropenia (SCN). STUDY DESIGN Case report and retrospective review. METHODS Review of medical records. RESULTS A 6-year-old female who was diagnosed with SCN presented with a cough and wheezing. An endoscopic study revealed laryngeal stenosis with granuloma. Tracheotom...

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Retraction. Neutrophil elastase mutations in severe congenital neutropenia patients of the original Kostmann family.

Severe congenital neutropenia (SCN), or Kostmann syndrome, was originally reported as an autosomal recessive disease of neutrophil production and recurrent bacterial infections. Heterozygous mutations in the neutrophil elastase (NE) gene have previously been identified in patients with sporadic or autosomal dominant SCN. Here we present cellular and molecular studies of all 4 surviving affected...

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INTRODUCTION Moebius syndrome is a rare congenital disorder characterized by unilateral or bilateral involvement of the sixth and seventh cranial nerves, resulting in a lack of facial expression and eye movements. These patients suffer a series of oral manifestations that may complicate their dental treatment, such as facial and tongue muscle weakness, uncontrolled salivation secondary to defic...

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Rehabilitation with Cochlear Implant in Patient with Harboyan Syndrome

Background Harboyan syndrome, defined as congenital corneal dystrophy associated with progressive sensorineural hearing loss, was first described by Harboyan in 1971. It is a hereditary disease manifested by eye lesions consistent with corneal endothelial dystrophy and progressive sensorineural hearing loss. There is bilateral symmetric progressive hearing loss, which may be either dominant or ...

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The pathogenesis of the granulopoietic failure in three children with severe congenital neutropenia was studied. Mature neutrophils were absent from both peripheral blood and bone marrow. Assay of bone marrow granulocyte colony-forming cells (CFU-C) in a methylcellulose tissue culture system using colony-stimulating activity (CSA) from peripheral blood leukocytes demonstrated normal or increase...

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ژورنال

عنوان ژورنال: Journal of Oral and Maxillofacial Surgery

سال: 2012

ISSN: 0278-2391

DOI: 10.1016/j.joms.2011.12.034