Congenital syndrome characterized by a combination of
Moebius syndrome and Pierre Robin sequence.
Myopathy; Moebius Robin Syndrome.
Fewer than 10 cases have been described. No sexual
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
Based on clinical findings of the characteristic facies
and muscular weakness. Neuromuscular investigations may confirm the
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.
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.
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.
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.
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.
Pierre Robin Syndrome: A syndrome with multiple etiologies resulting
from mandibular aplasia. Characterized by the association of cleft palate,
glossoptosis, and micrognathia.
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 ...