Jean Pierre Guadagnini

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Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome that is characterized by lacey reticular hyperpigmentation of the skin, dystrophic nails, mucous membrane leukoplakia and pancytopenia. Diagnosis may be delayed until clinical signs are apparent. Severe pancytopenia frequently causes early mortality of DC patients, who have an(More)
The aim of this study was to assess and characterize dental and craniofacial findings in individuals with a confirmed diagnosis of Smith-Magenis syndrome (SMS). Extraoral and intraoral examination including dental and craniofacial radiographs and three-dimensional facial photoimaging were performed for 15 cases between ages 4 and 19 years old. Tooth(More)
INTRODUCTION AND OBJECTIVE To characterize enamel defects in patients with methylmalonic acidemia (MMA) and cobalamin (cbl) metabolic disorders and to examine salivary methylmalonate levels in MMA. SUBJECTS AND METHODS Teeth from patients (n = 32) were evaluated for enamel defects and compared with age- and gender-matched controls (n = 55).(More)
OBJECTIVES Cystinosis is a rare autosomal recessive lysosomal storage disorder with developmental and mineralization anomalies as part of its clinical presentation. The objective of this study was to provide the first systematic assessment of the craniofacial and dental characteristics associated with cystinosis. STUDY DESIGN Oral and radiographic(More)
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