title: Imaging findings in congenital cranial dysinnervation disorders.
abstract: In 2002, the term congenital cranial dysinnervation disorders (CCDDs) was proposed to group heterogeneous syndromes with congenital abnormalities of ocular muscle and facial innervations. The concept of neurogenic etiology has been supported by discovery of genes that are essential to the normal development of brainstem, cranial nerves, and their axonal connections. The CCDDs include Duane retraction syndrome, congenital fibrosis of the extraocular muscles, Möbius syndrome, horizontal gaze palsy with progressive scoliosis, the human homeobox-related disorders, pontine cap tegmental dysplasia, and an expanding list. The purpose of this review was to update the imaging features, as well as clinical and genetic information, regarding cases of CCDDs.
authors.affiliation: From the *Clínica Imagem, Florianópolis; †Clinica Medimagem, São Paulo; ‡Joinvile; and §Hospital Universitário-Universidade Federal de Santa Catarina, Florianópolis, Brazil.
authors.forename: Rafael Martins
authors.initials: RM
authors.lastname: Ferreira
authors.forename: Lazaro L F
authors.initials: LL
authors.lastname: Amaral
authors.forename: Marcus V M
authors.initials: MV
authors.lastname: Gonçalves
authors.forename: Katia
authors.initials: K
authors.lastname: Lin
mesh_terms: D003391:Cranial Nerves / Q000002:abnormalities* / Q000473:pathology; D004370:Duane Retraction Syndrome / Q000175:diagnosis*; D005260:Female; D005355:Fibrosis / Q000151:congenital* / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D020331:Mobius Syndrome / Q000175:diagnosis*; D015835:Ocular Motility Disorders / Q000151:congenital* / Q000175:diagnosis; D009801:Oculomotor Muscles / Q000473:pathology*; D012680:Sensitivity and Specificity; D000093922:Congenital Cranial Dysinnervation Disorders