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Rare disorder characterized by developmental delay, ataxia, dysmorphic facial features, and seizures associated with a happy, sociable disposition.

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Angelman Syndrome; Puppet Children; Puppet-Like Syndrome; Syndrome du Pantin Hilare (French).

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Genetic or sporadic disease first described by Harry Angelman in 1965.

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1:12,000-20,000 live births.

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Some cases are transmitted as an autosomal dominant trait.

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Caused by a gene encoding ubiquitin-protein ligase (UBE3A) located on 15q11-13.

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Onset between 3 and 7 years of age. The affected children have a happy disposition and laugh frequently for almost any reason. Movements are jerky, like those of a marionette or puppet. Seizures are present in 96% of cases with a characteristic EEG.

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Features include neurologic disorders (jerky movements caused by ataxia associated with hypertonia, brisk tendon reflexes, hyperreflexia, hyperkinesia, hypsarrhythmia, epilepsy, cerebral atrophy/myelin abnormality at MRI), craniofacial malformations (brachycephaly with occipital flattening, microcephaly, prognathism, macrostomia, oligodontia, protruding tongue, open mouth, widely spaced teeth, deficient pigmentation of the choroid with optic pallor and characteristic blue irides and Brushfield spots), and skin (hypopigmentation, blond hair). Associated with happy disposition, children present with hyperactivity, restlessness, absent speech, sleeping disorders, feeding problems, and drooling. Thoracic scoliosis can be observed.

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Evaluate tracheal intubation because of skull anomalies (clinical, radiographs). Evaluate neurologic function (clinical, CT, MRI, EEG, epileptic treatment efficiency).

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Cooperation is impossible to obtain and often makes anesthetic induction difficult. Tracheal intubation can be difficult and may require adapted anesthetic management.

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Consider interaction between antiepileptic treatment and anesthetic drugs. Muscle relaxants should be avoided until airway is secure.

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Allan-Herndon Syndrome: Although most neonates and infants with this disorder appear to develop normally in the first few months of life, the presence of poor muscle tone is most often already present at birth. By 6 months of age, hypotonia, inability to hold up the head, and severe muscle atrophy are detectable. Severe mental retardation is associated with multiple congenital anomalies.

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Fragile X Syndrome: Most common form of X-linked mental retardation that affects males more often and more severely than females. Only subtle dysmorphic features, but behavioral issues may be more pronounced.

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Juberg-Marsidi Syndrome: X-linked recessive inherited syndrome characterized by severe mental retardation, deafness, failure to thrive, microgenitalism, and early death.

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MASA Syndrome (Mental retardation, Aphasia, Shuffling gait, Adducted Thumbs Syndrome): Extremely rare inherited disorder that is one of several disorders known as X-linked mental retardation syndrome.

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Renpenning Syndrome: Extremely rare form of X-linked (moderate-to-severe) mental retardation. It has been linked to Xp11.2-p11.4. Other findings may include short stature, moderate microcephaly, prognathism, and small testes. Affected patients may use repetitive speech and show aggressive behavior. Longevity seems not to be impaired, and female carriers do not show any heterozygous signs.

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Sutherland-Haan Syndrome (Sutherland-Haan X-Linked Mental Retardation Syndrome; X-Linked Mental Retardation with Spastic ...

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