Literature DB >> 25059018

Left cerebral hemisphere and ventricular system abnormalities in a Mexican Meier Gorlin syndrome patient: widening the clinical spectrum.

L E Martínez-Barrera, C García-Delgado, C Manzano-Sierra, V F Morán-Barroso.   

Abstract

The Meier-Gorlin syndrome (MGS) or ear, patella, short stature syndrome (MIM #224690) is a rare disorder with bilateral microtia, aplasia or hypoplasia of the patellae and severe intra-uterine and post-natal growth retardation. We report the case of a 10-year-old male with MGS diagnosis, his parents were related, he also showed conductive hearing loss and maloclussion and long upper central incisors, more importantly he had asymmetry of the left cerebral hemisphere and ventricular system, his intelligence was normal. As far as we know, these abnormalities have not been previously described in patients with MGS and the present report corresponds to the first Mexican case described so far.

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Year:  2014        PMID: 25059018

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  1 in total

Review 1.  Meier-Gorlin syndrome.

Authors:  Sonja A de Munnik; Elisabeth H Hoefsloot; Jolt Roukema; Jeroen Schoots; Nine V A M Knoers; Han G Brunner; Andrew P Jackson; Ernie M H F Bongers
Journal:  Orphanet J Rare Dis       Date:  2015-09-17       Impact factor: 4.123

  1 in total

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