title: Mandibulo-facial dysostosis: comparison study of a neonate with mandibulo-facial dysostosis and a normal neonate.
abstract: Mandibulo-facial dysostosis (MFD) is a malformative syndrome with autosomal dominant transmission and variable expressivity that mainly affects derivatives of the first and second branchial arches. The subsurface anatomy of this condition is still partly unexplored since there have been only four reported dissections of MFD. A detailed dissection of the head and neck of a neonate with MFD is described and compared with a normal neonate. Theories of the pathogenesis are discussed on the basis of these observations.
authors.affiliation: Department of Surgery, C.H.U., Bichat Claude Bernard, Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Cannistrá
authors.forename: J P
authors.initials: JP
authors.lastname: Barbet
authors.forename: A
authors.initials: A
authors.lastname: Houette
authors.forename: J L
authors.initials: JL
authors.lastname: Marchese
authors.forename: G
authors.initials: G
authors.lastname: Iannetti
mesh_terms: D001934:Branchial Region / Q000473:pathology; D002972:Cleft Palate / Q000473:pathology; D004431:Ear, External / Q000002:abnormalities; D007758:Ear, Inner / Q000002:abnormalities; D005004:Ethmoid Bone / Q000002:abnormalities; D005124:Eye Abnormalities / Q000473:pathology; D005147:Facial Bones / Q000002:abnormalities; D005152:Facial Muscles / Q000002:abnormalities; D005624:Frontal Bone / Q000002:abnormalities; D015870:Gene Expression; D005799:Genes, Dominant; D006801:Humans; D006972:Hypertelorism / Q000473:pathology; D007091:Image Processing, Computer-Assisted; D007231:Infant, Newborn; D008334:Mandible / Q000002:abnormalities; D008335:Mandibular Condyle / Q000002:abnormalities; D008342:Mandibulofacial Dysostosis / Q000235:genetics / Q000473:pathology*; D008406:Masseter Muscle / Q000002:abnormalities; D009915:Orbit / Q000002:abnormalities; D010306:Parotid Gland / Q000002:abnormalities; D063173:Retrognathia / Q000473:pathology; D013100:Sphenoid Bone / Q000002:abnormalities; D013699:Temporal Arteries / Q000002:abnormalities; D013701:Temporal Bone / Q000002:abnormalities / Q000294:innervation; D015050:Zygoma / Q000002:abnormalities