ESPE Abstracts

Introduction: PKDCC gene mutation was first described in 2017, with ten patients described in the literature to date. It is associated with rhizomelic skeletal dysplasia, short stature, characteristic facial features of flat high forehead, hypertelorism, micrognathia and in some cases hearing loss. The clinical phenotype is expanding as confirmed cases emerge.Case Description: We present two brothers born to non-consangu...

Background: Cardiofaciocutaneous syndrome (CFCS) is a rare autosomal dominant (AD) condition characterized by cardiac abnormalities, a distinctive craniofacial appearance and short stature. Endocrine manifestations include GH deficiency and precocious puberty. CFCS is part of the RASopathy group including Noonan, LEOPARD, and Costello syndromes. The four associated genes are BRAF (~75%), MAP2K1 and MAP2K2 (~25%), and KRAS (<2%). Most individuals represent new sporadic muta...