Report of the First Moroccan Case of Fusion of Metacarpals 4/5 and Review of the Literature

Abstract

Metacarpal 4-5 fusion (MF4; MIM #309630) is a very rare congenital malformation of the hand. It consists of a partial or complete fusion of the fourth and fifth metacarpals. This anomaly could be isolated or could be part of a genetic syndrome. Recently, FGF16 nonsense mutations were reported as the cause of isolated X-linked recessive MF4. We report an 18-month-old Moroccan boy with metacarpal 4-5 fusion for whom Sanger sequencing of the entire coding sequence of FGF16 was performed. FGF16 sequencing identified the already reported (c.C535T; p.R179X) mutation in exon 3 of the gene. The mutation was found in heterozygosity state in the clinically unaffected mother of the proband. Our finding showed that truncating mutation (c.C535T; p.R179X) of FGF16 causing X-linked recessive metacarpal 4-5 fusion is recurrent in patients from different ethnicity.




Int J Clin Pediatr. 2014;3(4):117-120
doi: http://dx.doi.org/10.14740/ijcp176e