Germline expression of H-RasG12Vcauses neurological deficits associated to Costello syndrome
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چکیده
منابع مشابه
Costello syndrome.
Costello syndrome is a rare, distinctive, multiple congenital anomaly syndrome, characterized by soft, loose skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features and skeletal and cardiac abnormalities. The affected patients have a predisposition to develop malignancy, developmental delays and mental retardation. Recently, a 7-year-old male child born to no...
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In the early 1980s, a 17-year-old girl and her mother were referred to me. The mother had a life-long history of seizures—ultimately well controlled with phenytoin—but she had never had an ECG. Her daughter began to have seizures in late childhood, several times per year, 1 of which was particularly prolonged and left her with a new, permanent neurological disorder impairing motor skills, compr...
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In two patients with carotid artery stenosis and anemia, neurological deficits appeared whenever the hemoglobin level fell below a critical level of 5-6 g/dl and resolved with correction of the anemia. Profound anemia should be considered as a cause of focal neurological deficit, especially if there is evidence of cerebral atherosclerosis.
متن کاملSevere scoliosis associated with Costello syndrome: a case report.
Costello syndrome is characterised by dwarfism, unique cutaneous lesions, a distinct facial gestalt, and mental retardation. There have been no detailed reports of severe spinal deformities requiring surgical treatment as a complication of Costello syndrome. We report a case of a 10-year-old girl with progressive scoliosis associated with Costello syndrome. She underwent anterior release and po...
متن کاملAnaesthetic Management in Costello Syndrome.
Costello syndrome is a rare genetic disorder characterised by growth and mental retardation, macrocephaly, short neck and macroglossia. Cardiac involvement can also occur in Costello syndrome and is presented in the form of hypertrophic cardiomyopathy, tachyarrythmias and valvular dysfunction. Nervous system involvement including ventriculomegaly, hydrocephaly and Chiari type 1 malformation are...
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ژورنال
عنوان ژورنال: Genes, Brain and Behavior
سال: 2009
ISSN: 1601-1848,1601-183X
DOI: 10.1111/j.1601-183x.2008.00443.x