The Moebius Syndrome: A Report of Three Cases
Delfin J. Uribe, M.D. Charles H. Epps, JR., M.D.
The congenital disorder which is the subject of this report was described by several authors at almost the same time. However, Moebius is generally given prime credit for the description of the condition, and the syndrome bears his name4.
Among the characteristic features are deafness; ptosis; lingual and trigeminal palsy; defects of the muscles of the chest, neck and tongue; situs inversus of the heart; and underdevelopment of the lower jaw. Mental deficiency has also been reported. Extremity anomalies have included absence of the hands or feet, absence of fingers or toes, supernumerary digits, clubfoot and webbing of the fingers or toes. The similarity of the extremity anomalies, as well as the distinctive facial characteristics evident in three of our patients, first directed our attention to this syndrome.
The facial expression is characteristically mask-like. This appearance is caused by complete or partial facial paralysis which may be unilateral or bilateral. Typically lateral movements of the eyes are not possible and the patient has to turn his head to look to either side. Pupillary reactions are present, but closure of the eyelids is frequently incomplete. Excess lacrimation may be present. The mouth, which has a high palate, is constantly open and the underdevelopment of the lower jaw is striking. The tongue is small and rather immobile2.
Interesting investigations performed in the field of ophthalmology, involving electromyographic studies of the extra-ocular muscles, have revealed a pattern consistent with congenital aplasia of the nuclei and absence of innervation to the involved musculature, as well as evidence to indicate supranuclear involvement1,3.
Each of our three patients has micronathia or a recessed and underdeveloped mandible. All have received orthodontic care.
Case No. 1-M.C., a 13-year-old male, has been followed since he was six years of age. He presented the typical facies with involvement of the facial nerve (more evident on the left than the right), hypoplasia of the mandible (Fig. 1 ), and deficient horizontal ocular movements. Partial involvement of the third cranial nerve was also apparent. The tongue was small and the palate high (Fig. 2 ). A speech impairment later improved with therapy.
The limb deficiency was diagnosed as terminal adactylia. The patient was fitted with a conventional wrist-disarticulation-type prosthesis at the age of five years and soon mastered the basic skills. However, he later abandoned the prosthesis, but continued to use a baseball-mitt prosthesis when playing ball (Fig. 3 ). The patient attends regular school and engages in activities normal for his age.
Case No. 2-D.M. was seen initially at the age of six months. His mother indicated that pregnancy had been uneventful except for bleeding during the third month and a kidney infection.
Examination revealed bilateral facial nerve paralysis with an expressionless face and inability to smile or frown. The boy was unable to close his eyelids completely or turn either eye outward. A severe internal strabismus was partially corrected by bilateral surgical medial muscle recession. This operation improved eye alignment. The mouth was constantly open and the lower jaw was underdeveloped. Associated conditions were a high palate, microglosia and decreased motion of the tongue. He required speech therapy for an impairment which has improved over the years.
In the lower limbs bilateral clubfoot deformities were corrected by serial plaster casts. The hand was absent on the right upper limb (acheiria). Rudimentary nubbins were excised at an early age. D.M. was fitted with a standard wrist-disarticulation prosthesis which was well accepted and he soon developed excellent functional skill (Fig. 4 ). The patient presently enjoys normal activities and attends regular school. Orthodontic data on this patient provided by Jeremy D. Orchin, D.D.S., Potomac, Maryland, follow:
- D.M. was first seen in July 1968. He had a severe class II, division I, malocclusion. Because of his congenitally deformed tongue, his lower arch was markedly collapsed. He also had congenital absence of three lower incisors. Because of the collapse of the lower arch, it was completely within the upper arch resulting in no occlusion at all, and protrusion of the upper front teeth (Fig. 5 ).
- Orthodontic treatment was started in August 1968 when the boy was 8 years and 10 months of age. Cephalometric analysis indicated that the maxilla was anterior to the cranial base and the mandible was retrusive to both the maxilla and the cranial base (Fig. 6 ). The continuous lines and unshaded areas in the diagram represent the positions of structures on the cephalometric tracing made before treatment. The treatment plan involved restraining the forward growth of the maxilla and expanding the mandibular dental arch while allowing the mandible to grow downward and forward through its genetic potential.
- Over a period of five years the treatment yielded successful results. The maxillary first bicuspids were extracted. Headgear was applied to the maxillary arch and the mandibular arch was expanded. All upper and lower spaces were closed and the pre-maxilla retracted. The patient now has good function and the aesthetics of the situation have improved tremendously. The before and after, frontal and profile, photographs indicate the tremendous improvement in aesthetics and facial balance (Fig. 7 ). The cephalometric tracings taken after treatment in 1973 demonstrate the restraint of forward maxillary growth, retraction of the premaxilla, and good forward growth of the mandible (Fig. 6 ). The interrupted lines and shaded areas represent the position of structures at the completion of treatment.
Case No. 3-D.W. was referred to the Orthopaedic Clinic at the age of six months. The historical record indicated that at birth the tongue was attached to the roof of the mouth and, as a life-saving procedure, the tongue was partially amputated. This operation left a short tongue, which was surgically freed of its posterior-lateral attachments to allow a better range of motion. This combination of anomalies gave him an ineffective speech which was ultimately improved by speech therapy. There was also paralysis of the sixth cranial nerve on the right side and partial facial nerve paralysis (Fig. 8 and Fig. 9 ).
The left upper limb exhibited a central hand deficiency or "lobster-claw" hand (Fig. 10 ). Fig. 11 shows the absent left foot (apodia). The right foot showed absence of the great toe and rudimentary second, third, fourth and fifth toes. A regular shoe was satisfactory for the right foot. The apodia was fitted with a Syme's-type prosthesis with excellent functional results (Fig. 12 ).
The hand with the central deficiency has proved to be a functional member and the Syme's prosthesis has produced an excellent cosmetic and functional result. This patient functions normally for his age and attends regular school.
Three patients exhibiting the Moebius syndrome have been presented. The characteristic anatomical features are deafness, ptosis, lingual and trigeminal palsy, fourth and sixth cranial nerve palsy, defects of the muscles of the chest, neck and tongue, situs inversus and micronathia. The individual anomalies seen in the three patients have been described with special attention to the prosthetic restoration of limb deficiencies. Because several organ systems are involved, a multiple-disciplinary approach is necessary to provide maximum rehabilitation for these cases.
Juvenile Amputee Clinic District of Columbia General Hospital Washington, DC.
1. Breinin, G. M., New aspects of ophthalmoneurologic diagnosis. AMA Arch. Oph., 58:375, 1957.
2. Henderson, J. L., The congenital facial diplegia syndrome, clinical features pathology and aetiology. Brain, 62:381, 1939.
3. Merz, M., and S. Wojtwicz, The Moebius syndrome. Journal Oph., 68:837, 1967.
4. Moebius, P. J., Munch. Med Wschr. 39:17, 1892, cited in Reed, H. and Grant W.: Moebius Syndrome. Brit. Journal Oph., 41:731, 1957.