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Congenital syndrome characterized by a combination of Moebius syndrome and Pierre Robin sequence.

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Myopathy; Moebius Robin Syndrome.

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Fewer than 10 cases have been described. No sexual predilection.

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Autosomal recessive.

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Not completely understood. Electromyography shows fasciculations and small motor units. Nerve conduction velocity and serum creatinine kinase are normal. Muscle biopsy shows a variation in fiber size, evidence of degeneration and regeneration, and a predominance of type II fibers.

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Based on clinical findings of the characteristic facies and muscular weakness. Neuromuscular investigations may confirm the diagnosis.

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Microstomia and micrognathia occur secondary to partial absence of the mandible. Microcephaly, ptosis, ophthalmoplegia, downward slanting of the palpebral fissures, thin upper lip with long philtrum, arched palate or cleft palate, and absence or hypoplasia of the tongue may be observed. The pectoral muscles are absent or hypoplastic. Muscle weakness secondary to nonspecific primary myopathy predominantly affects the limbs, although facial weakness with an expressionless face has been described. Skeletal features include scoliosis, brachydactyly, varus deformity, and talipes equinovarus. Bulbar dysfunction can occur. Variants of this disease with central hypoventilation have been described. Laryngostenosis has been described in one patient. Intelligence is normal.

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Examination should be directed toward evaluation of the airway, degree of muscle weakness, and identification and treatment of active pulmonary infection (recurrent aspirations). Check for central hypoventilation syndrome. Depending on the procedure, postoperative mechanical ventilation may be required.

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Anesthesia in these patients has not been described. However, the facial features suggest airway management most likely will be difficult. Maintain spontaneous ventilation until the airway has been secured. Although patients are at increased risk for aspiration because of bulbar palsy, a rapid sequence intubation technique cannot safely be accomplished in the presence of a potentially difficult airway. Alternatively, awake fiberoptic intubation can be used.

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Avoid neuromuscular blockers until the airway has been secured. Succinylcholine is best avoided in myopathic syndromes. Expect patients to be very sensitive to the respiratory depressant effects of anesthetic drugs.

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Moebius Syndrome: A rare developmental disorder characterized by facial paralysis already present at birth. Facial nerve development is absent, and the sixth (abducens) and seventh (facialis) cranial nerves are most often affected. Other features include numerous abnormalities of the orofacial region and malformations of the limbs. Mental retardation occurs in approximately 10% of patients.

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Pierre Robin Syndrome: A syndrome with multiple etiologies resulting from mandibular aplasia. Characterized by the association of cleft palate, glossoptosis, and micrognathia.

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Braddock Carey Syndrome (Thrombocytopenia Robin Sequence): Features are similar and associated with thrombocytopenia, deafness, short stature, and absent scalp hair. Extremely rare disorder (described in two girls only) with a characteristic dysmorphism (microcephaly, facial anomalies with Pierre Robin sequence, agenesis of the corpus callosum, enamel hypoplasia, and chronic thrombocytopenia, although megakaryocytes can be adequate) already present in the neonatal period. Mental retardation ...

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