[Laterofacial malformations (maxillomandibular neurocristopathies) associated with anomalies of the brain stem and cranial nerves].
Neurological and cerebral computed tomography examinations were conducted in 25 infants and young children with uni- or bilateral maxillomandibular neurocristopathies (Goldenhar's, Franceschetti's first arch syndromes or transient forms). Taking all lesions into account, 18 children (82%) presented morphological and motor anomalies of the brain stem (mesencephalus, metencephalus) and its corresponding cranial nerves: four had morphological anomalies of the cerebellum and pons; four presented disorders of bulbopontine control (heart, lungs, deglutition); fifteen demonstrated sensory, sensorial, and motor deficiencies of the paired cranial nerves III, V, VI, VII, and VIII. The high frequency of ocular malformations in this series is emphasized: there were three cases of cryptophthalmia and one case of bilateral iris coloboma. These findings are in agreement with recent acquisitions in the field of cephalic developmental biology: the cephalic neural crest cells, after migration from the mesencephalorhombencephalic neural fold, contribute to the latero-facial and ocular organogenesis. The unity of origin of the face and brain provides an explanation for the predictive role of the former in case of malformations of the brain and its cranial nerves.
D001933:Brain Stem / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D003391:Cranial Nerves / Q000002:abnormalities*; D005124:Eye Abnormalities; D005145:Face / Q000002:abnormalities; D006801:Humans; D007223:Infant; D007569:Jaw Abnormalities / Q000473:pathology; D008342:Mandibulofacial Dysostosis / Q000473:pathology; D009432:Neural Crest; D009436:Neural Tube Defects / Q000473:pathology*; D013577:Syndrome; D014057:Tomography, X-Ray Computed
Malformations latéro-faciales (neurocristopathies maxillo-mandibulaires) associées à des anomalies du tronc cérébral et des nerfs crâniens.