Multiple cranial nerve neuropathies, microcephaly, neurological degeneration, and "fork and bracket sign" in the MRI: a distinct syndrome

American Journal of Medical Genetics. Part a
André MégarbanéJean Tamraz

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.

References

Dec 1, 1992·Brain : a Journal of Neurology·M A McShaneJ Wilson
Jan 24, 2004·Pediatric Neurology·Joseph M DooleyArawn Therrien
Sep 1, 2006·Neurology·T LinnankiviH Pihko
Dec 14, 2007·American Journal of Medical Genetics. Part a·T A BriggsY J Crow
Jan 1, 2008·European Journal of Medical Genetics·Enza Maria ValenteBruno Dallapiccola
May 6, 2008·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·Sean DumarsJoseph L Demer

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Citations

May 11, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Hanan HamamyAlan H Bittles
Apr 29, 2016·Neurology. Genetics·Marta RomaniEnza Maria Valente
Jun 14, 2021·BMC Medical Genomics·Beatrice BertiVittoria Petruzzella

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