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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. ...

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