CONCLUSION
MBS is a rare disease with heterogeneous diagnostic criteria leading to
an increased chance of misdiagnosis. Investigation of such patients
should include mainly an MRI of the brainstem.
Amongst the associated symptoms, respiratory distress and feeding
difficulties due to craniofacial anomalies are common findings. These
patients should be refered to the ENT specialist, besides detailed
examination by the pediatrician, ophthalmologist, neurologist,
psychotherapy and support groups for the parents.
ABBREVIATIONS:
MBS – Moebius syndrome
CN – cranial nerve
ENT – Ear, Nose and Throat
MRI – magnetic resonance imaging
NICU - neonatal intensive care unit
Figure legends:
Figure 1 – Mask-like face appearance of MBS patient, with wide nasal
root, oblique palpebral fissure, bilateral convergent strabismus (gaze
palsy) and ptyalism
Figure 2 –a) left hand brachydactyly and simian crease; b) left hand
brachydactyl; c) right hand brachydactyly and simian crease; d) right
hand brachydactyly
Figure 3 – fibroscopic view of larynx during expiratory phase after
supraglottoplasty
Figure 4 - Axial T2-weighted image shows bilateral absence of the facial
colliculus in the pontine tegmentum (vertical arrows). The fourth
ventricle has an inverted V shape. At the level of middle cerebellar
peduncles there are no radiologic traces of abducens nerves; the arrows
(horizontal arrows) depict the normal trajectory of abducens nerves at
this level.