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


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

Publicada: 1 ene 2014
Categoría: Genetics (clinical)

Resumen:
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.
ISSN: 10158146





GENET COUNSEL
Editorial
MEDECINE ET HYGIENE, CH DE LA MOUSSE 46, CASE POSTALE 475, CH-1225 CHENE-BOURG, SWITZERLAND, Suiza
Tipo de documento: Article
Volumen: 25 Número: 2
Páginas: 189-195
WOS Id: 000338752600009
ID de PubMed: 25059018