Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Möbius syndrome

Abstract

We report a male child with Oromandibular-limb hypogenesis (OMLH), the main features being bilateral sixth and seventh nerve palsies, limb anomalies and hypoplasia of the tongue. Additional features were shortness of the neck associated with torticollis. Radiographs of the cervical spine were non-contributory, but 3D computed tomography (CT) scanning of this area identified: a) congenital hypoplasia of the atlas; b) the simultaneous development of occiput-atlas malformation/developmental defect. To our knowledge, this is the first clinical report assessing the cervico-cranium malformation in a child with OMLH-Möbius syndrome.

Figure 1

Proband phenotype.

Figure 2

Proband phenotype and hands: Subtotal absence of the phalanges (preservation of the hypoplastic thumbs and hypoplastic 5^th fingers, respectively).

Figure 3

Sagittal MRI imaging, showed markedly hypoplastic tongue.

Figure 4

3D reconstruction CT scan ; Hypoplastic anterior arch of the atlas and the impacted os terminale of the odontoid (arrow) between the two halves of the maldeveloped anterior arch of the atlas-the os terminale usually fuses at 12 years of age-this can be confused with fracture.

Figure 5

3D sagittal CT scan; Agenesis of the posterior arch of the atlas (arrow-a). Arrow (b) notes the Wachenheim clivus line, which is drawn along the posterior aspect of the clivus toward the odontoid process; in our patient the line does not intersect or is it tangential to the odontoid process. The latter confirms the existence of progressive craniocervical abnormality.

Figure 6

3D reconstruction CT scan showed agenesis of posterior arch of the atlas.