Beaked nose with syndactyly: A rare case of Rubenstein-Taybi syndrome
نویسندگان
چکیده
منابع مشابه
New dysmorphic features in Rubinstein-Taybi syndrome.
We report a new case of Rubinstein-Taybi syndrome with a hypoplastic right kidney, persistent pulmonary hypertension, and mitral valve regurgitation. Other pertinent features included broad thumbs, broad big toes, syndactyly of the third and fourth fingers bilaterally, beaked nose, broad columella of the nose, patent ductus arteriosus, and motor and mental retardation. The testes were descended...
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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...
متن کاملRubinstein-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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A 7-year- old male child presented with the complaints of tense abdominal distension and swelling over feet since 1 month. The patient had repeated episodes of similar complaints since last two years with partial or complete relief after taking various forms of allopathic therapy. On imaging, Budd-Chiari syndrome was diagnosed which was hallmarked by occluded Inferior venacava (IVC), caudate lo...
متن کاملRubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report
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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ژورنال
عنوان ژورنال: Medical science
سال: 2023
ISSN: ['2321-7367', '2321-7359']
DOI: https://doi.org/10.54905/disssi/v27i136/e280ms3070