Matoso, ERamos, FFerrão, JPires, LMMascarenhas, AMelo, JBCarreira, IM2016-12-122016-12-122014Mol Cytogenet. 2014 Dec 9;7(1):87. dhttp://hdl.handle.net/10400.4/1989We report a male patient with developmental delay carrying an interstitial 4p16.3 deletion of 287 kb, disclosed by oligo array-CGH and inherited from his father with a similar but milder phenotype. This deletion is distal to the Wolf-Hirschhorn syndrome critical regions, but includes the FGFRL1 gene proposed to be a plausible candidate for part of the craniofacial characteristics of Wolf-Hirschhorn syndrome patients. However, the proband lacks the typical facial appearance of the syndrome, but exhibits overgrowth, dysfunction of temporomandibular articulation and a bicuspid aortic valve. Given the pattern of expression of the fibroblast growth factor receptor-like 1 and its involvement in bone and cartilage formation as well as in heart valve morphogenesis, we discuss the impact of its haploinsufficiency in the phenotype.engCriançaPerturbações do DesenvolvimentoPerturbações da LinguagemProteína FGFRL1 humanajournal article10.1186/s13039-014-0087-2