Möbius syndrome with cardiac rhabdomyomas

Background: Möbius syndrome is a rare congenital condition which presents not merely with 6th and 7th nerve palsies, but involves gaze paresis associated with craniofacial, limb, and other abnormalities. Heterogeneity is well known in patients with Möbius syndrome and rather than being of familial inheritance based on rare cases, it is much more recognized as a sporadic syndrome. We report an infant with features of congenital Möbius syndrome associated with cardiac rhabdomyomas in the absence of tuberous sclerosis.

Materials and methods: Observational case report of an infant seen at a tertiary academic center with genetic testing, ophthalmic, neurological, and cardiac clinical examination and imaging.

Results: A newborn baby boy at birth was seen with multiple congenital craniofacial malformations, and respiratory distress. He was noted to have micrognathia, retrognathia, wide nasal bridge, low set ears, high arched palate, nonreducing bilateral talipes equinovarus and bilateral large angle esotropia with -4 abduction deficit and facial palsy, findings suggestive of Möbius Syndrome. MRI of the brain was unremarkable except for syringomyelia in the cervical spine. Echocardiography showed two cardiac rhabdomyomas in the right ventricle and ulltrasound of the abdomen showed mild right hydroneprosis. Cytogenetics revealed segmental loss at 21q21.2. Testing for tuberous sclerosis was negative for deletion or duplications of genes TSC1 and TSC2.

Conclusion: This case highlights the rare co-occurrence of cardiac rhabdomyomas with Möbius syndrome and new segmental loss at 21q21.2 on genetic testing. Findings could indicate not a "suggestion of Möbius", but rather the syndrome itself in association with cardiac defects.