Dental management of Rothmund-Thomson syndrome with partial anodontia
نویسندگان
چکیده
منابع مشابه
Rothmund-Thomson syndrome
Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to cancer. The prevalence is unknown but around 300 cases have been reported in the litera...
متن کاملOral Findings of Rothmund-Thomson Syndrome
Rothmund-Thomson syndrome (RTS) is an extremely rare genetic condition exhibiting some dermatological, craniofacial, ophthalmological, and central nervous system abnormalities. It has an autosomal, recessive inheritance and its signs begin at childhood. Essential dermatological alteration is poikilodermatosis. A large head with an frontal bossing and broad low nasal bridge has been described in...
متن کاملExcision repair defect in Rothmund Thomson syndrome.
Rothmund Thomson syndrome is a rare autosomal recessive skin disorder. The main clinical feature is poikiloderma appearing in early childhood associated with skeletal abnormalities. Early occurrence of malignancies is another relevant feature. Here we describe the clinical features of 2 patients with Rothmund Thomson syndrome who were investigated for the in vitro DNA repair capacities of blood...
متن کاملRothmund-Thomson syndrome: Immuno-osseous challenges
Results All patients had characteristic poikiloderma as well as thumb anomalies. They were born dysmaturely and presented with failure to thrive. Age at genetic diagnosis was 5y, 4y and 3y for P1, P2, P3. Osteopenia and abnormal metaphyseal trabeculation of bones were striking on the initial skeletal survey in all patients. Z-scores on DXA scan were -0.1, -1.1 and -1.2 for P1, P2, P3 respective...
متن کاملRare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings
RTS: Rothmund-Thomson syndrome INTRODUCTION Rothmund-Thomson syndrome (RTS) (OMIM #268400) is a rare autosomal recessive disorder characterized by erythema, blisters, and swelling that appears during infancy on the cheeks, spreads to the extremities, and eventually leads to poikiloderma. Additionally, a large percentage of patients have short stature and skeletal abnormalities, and some patient...
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ژورنال
عنوان ژورنال: Case Reports
سال: 2015
ISSN: 1757-790X
DOI: 10.1136/bcr-2015-209994