Article
Expansion of the phenotype of lateral meningocele syndrome.
American journal of medical genetics. Part A - 1 May 2020
Cappuccio Gerarda, Apuzzo Diletta, Alagia Marianna, Torella Annalaura, Pinelli Michele, Franco Brunella, Corrado Bruno, Del Giudice Ennio, D'Amico Alessandra, Nigro Vincenzo, Brunetti-Pierri Nicola
Abstract excerpt
Lateral meningocele syndrome (LMS) is due to specific pathogenic variants in the last exon of NOTCH3 gene. Besides the lateral meningoceles, this condition presents with dysmorphic features, short stature, congenital heart defects, and feeding difficulties. Here, we report a girl with neurosensorial hearing loss, severe gastroesophageal reflux disease, congenital heart defects, multiple renal cysts, kyphosis and...
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