title: Multiple cranial nerve neuropathies, microcephaly, neurological degeneration, and "fork and bracket sign" in the MRI: a distinct syndrome.
abstract: We report on two sibs with an elongated face with reduced expression, microcephaly, strabismus, wide philtrum, mild joint laxity, thumb sign, bilateral foot drop, and fixed pes cavus, absent tendinous reflexes, an unsteady gait, quick fatigue, slightly diminished limb muscle strength more pronounced distally, abnormalities of cranial nerves III, IV, VII, and most probably VI, and slowness in ideation. Previously unknown findings referred to as the "fork sign" at the pontine level and the "bracket sign" at the mesencephalic level were documented by magnetic resonance imaging. Differential diagnoses and the possibility of a hitherto unreported syndrome are discussed.
authors.affiliation: Faculté de Médecine, Unité de Génétique Médicale, Université Saint-Joseph, Beirut, Lebanon. megarbane@usj.edu.lb
authors.forename: André
authors.initials: A
authors.lastname: Mégarbané
authors.forename: Nathalie
authors.initials: N
authors.lastname: Dorison
authors.forename: Diana
authors.initials: D
authors.lastname: Rodriguez
authors.forename: Jean
authors.initials: J
authors.lastname: Tamraz
mesh_terms: D002648:Child; D003389:Cranial Nerve Diseases / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D008831:Microcephaly; D019636:Neurodegenerative Diseases; D035781:Siblings; D013577:Syndrome