First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant
نویسندگان
چکیده
منابع مشابه
Rubinstein-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...
متن کاملRubinstein 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...
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 ...
متن کاملExpanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
Rubinstein-Taybi syndrome (RSTS) can be caused by heterozygous mutations or deletions involving CREBBP or, less commonly, EP300. To date, only 15 patients with EP300 mutations have been clinically described. Frequently reported manifestations in these patients include characteristic facial and limb features, varying degrees of neurocognitive dysfunction, and maternal preeclampsia. Other congeni...
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-...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: BMC Medical Genetics
سال: 2016
ISSN: 1471-2350
DOI: 10.1186/s12881-016-0361-8