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A rare disease combining pulmonary valvular stenosis
with “café-au-lait” spots, dull intelligence and short stature. Other
features include macrocephaly and Lisch nodules. In most cases, a condition
that overlaps those of neurofibromatosis and the Noonan syndrome.
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Neurofibromatosis-Noonan Syndrome; Neurofibromatosis with
Noonan Phenotype.
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Autosomal dominant (possibly allelic with
neurofibromatosis type 1 [NF1]).
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Possibly caused by a mutation in the NF1 gene
located on 17q11.2.
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Characterized by pulmonary valvular stenosis,
café-au-lait spots, low-normal intelligence, and short stature.
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Patients have short stature. Clinical features
involve head and neck (macrocephaly, short neck, hypertelorism, broad forehead,
down-slanted fissures, ptosis, puffy eyelids, triangular face, deeply
grooved or flat philtrum, excess nuchal skin, large ears, epicanthic folds),
musculoskeletal system (limited knee and ankle movement, pectus excavatum, scoliosis kyphosis),
central nervous system (CNS) (hypotonia, seizures, mental retardation), and heart (ectasia of coronary
arteries, pulmonary valve). Other features can include retroperitoneal or
visceral neurofibromata, ectopic testes, hypospadias, and inguinal hernia.
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Evaluate cardiac function (clinical,
ECG, echocardiography), neurological function (clinical, CT, EEG) and for
potential difficulty during direct laryngoscopy and tracheal intubation
because of the possible existence of neurofibromata in the airway (clinical,
radiographs, fiberoptic if necessary).
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The anesthetic management will be
dictated by the presence of cardiovascular and/or neurological involvement.
Care in positioning patient in view of limited knee and ankle movement.
The use of regional anesthesia will be limited by the existence of neurofibromata.
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Muscle relaxants should be used only
after airway is secure and lung ventilation confirmed. Controversies exist about muscle relaxant (both
nondepolarizing and depolarizing) action duration in patients affected with neurofibromatosis.
Monitoring of the neuromuscular function is necessary. Consider interaction between anesthetic drugs and
antiepileptic treatment.
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Neurofibromatosis Generalisata: Rare
genetic disorder characterized by neurofibromas and hypoor
hyperpigmentation of the skin.
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McCune-Albright Syndrome: Characterized by
café-au-lait spots and very early puberty. The other features include
skeletal dysplasia, bone fractures, severe pain, and limited mobility.
Hyperthyroidism has been reported.
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Noonan Syndrome: A rare genetic disorder
characterized by distinctive craniofacial features, including ocular
hypertelorism, severe ptosis, prominent low-set ears and pterygium colli.
Also, the presence of short stature associated with characteristic
abnormalities of the sternum is important in the diagnosis. It is inherited
as an autosomal dominant trait.
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Proteus Syndrome: A rare genetic
disorder characterized by asymmetric growth of the body usually in the first
year of life. Abnormalities of the skin, face, eyes, ears, lungs, skeletal
muscles, and nerves occur, usually because one side of the body grows faster
than the other. Other clinical features include soft tissue tumors (e.g.,
hemangiomas, lipomas, and lymphangiomas). Other symptoms may include mental
impairment, seizures, visual abnormalities, and cysts in the lungs.
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Tuberous Sclerosis: A rare inherited
neurological disorder characterized by seizures, mental retardation, lesions
of the eyes and skin; and brain tumors. ...