Rubinstein-Taybi syndrome with humoral and cellular defects: a case report
نویسندگان
چکیده
منابع مشابه
Rubinstein-Taybi syndrome with humoral and cellular defects: a case report.
The first association of Rubinstein-Taybi syndrome with immunodeficiency and the successful prevention of infection with intravenous IgG is reported in a 4 year old boy. This case suggests that immunodeficiency maybe a prominent feature of this syndrome and may predispose these patients to recurrent infections.
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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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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...
متن کاملrubinstein-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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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 2000
ISSN: 0003-9888
DOI: 10.1136/adc.83.4.360