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

Ali Al Kaissi,Klaus Klaushofer,Maher Ben Ghachem,Hatem Safi,Farid Ben Chehida,Franz Grill

doi:10.1186/1750-1172-2-2

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.

Highlights

Trauma is the main cause of occiput-atlas abnormality in pediatric acute care practice
We report a 5 years old boy who presented with the full clinical criteria of the Oromandibular-limb hypogenesis (OMLH)Möbius syndrome
Computed tomography (CT) of the craniocervical region was the imaging of choice, and features compatible with occiput-atlas developmental defect and a hypoplastic atlas were identified

Summary

Background

Trauma is the main cause of occiput-atlas abnormality in pediatric acute care practice. Previous reports have discussed the hazardous outcome of occiput-atlas developmental abnormality in the normal pediatric population, but none has related the occiput-atlas injury to a preexisting craniocervical defect. In our knowledge, this is the first report of an association of occiput-atlas developmental abnormality with OMLH-Möbius complex. Clinical presentation The patient was born at full term following an uneventful gestation, to a 33 years old mother, with a four-year history of unexplained, primary infertility At birth, he weighed 2750 g (50 centile), and had a length of 46 cm (3rd centile) and an occipitofrontal circumference (OFC) of 32 cm (50th centile). 3abtcFhtaeDilengtawsurabetreaelcenaocsnd4on-ttsnhhtfereuusoticemwstdioptoewanhrciamtClheviTdnefrassoalcoescaftuntuteshr;rueHmalmyilnypaaoflludepseleaovsfetlatiochtpea1en2odtdeyaorenianotrtersoraiodorfcr(ahagroercf-ohtthwhoies)f 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

Discussion

Findings

Conclusion

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