Rubinstein-Taybi syndrome: A rare case report

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Rubinstein Taybi Syndrome: Developmental Evaluation-a Case Report

Rubinstein Taybi syndrome is a rare genetic abnormality that includes such features as facial abnormalities, broad thumbs on the hands and feet, small stature, and developmental delay (including fine and gross motor, communication, problem solving, personal-social delays). This case report represents a 12 months old male baby, was referred for his Developmental Delay, and after investigations a...

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Rubinstein-Taybi Syndrome: A Case Report

A patient with Rubinstein-Taybi syndrome is presented with the characteristic clinical features including small and short stature, severe mental retardation, and small maxilla with a dental malocclusion. Treatment for this patient was accomplished utilizing a general anesthetic. These special patients who lack the ability to accept dental treatment in the normal situation require extensive and ...

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rubinstein-taybi syndrome; a case report

objective rubinstein-taybi syndrome is a rare genetic disorder with characteristic featuresincluding downward slanting palpebral fissures, broad thumbs and halluces,and mental retardation. systemic features may involve cardiac, auditory,ophthalmic, endocrine, nervous, renal and respiratory systems. this syndromeis sporadic in nature and has been linked to microdeletion at 16p 13.3 encodingcreb-...

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Rubinstein-Taybi Syndrome (RSTS) is an autosomal dominant disorder that is classically characterized by prenatal and postnatal growth restriction, microcephaly, dysmorphic craniofacial features, broad thumbs and toes, and intellectual disability. We describe the first reported case of a pituitary macroadenoma associated with RSTS. A 39-year-old Caucasian female with a past medical history of RS...

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Rubinstein Taybi syndrome or Broad Thumb and Hallux syndrome is a genetic multisystem disorder characterized by facial dysmorphism, growth retardation and mental deficiency. A ten-year-old boy who had come to the Department of Pedodontics, Ragas Dental College, Chennai, with the chief complaint of unaesthetic appearance with extra teeth revealed delay in the developmental milestones. The patien...

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ژورنال

عنوان ژورنال: Indian Dermatology Online Journal

سال: 2019

ISSN: 2229-5178

DOI: 10.4103/idoj.idoj_108_19