SKL Ho, HM Luk, IFM Lo

Abstract

CREBBP pathogenic variants were known to be associated with Rubinstein-Taybi syndrome (RTS). However, missense variants in exon 30 or 31 of CREBBP were identified to cause a distinctive phenotype different from classical RTS. In 2016, Menke et al first reported 11 individuals with de novo missense variants in the last part of exon 30 or at the beginning of exon 31 of CREBBP. These affected individuals were found to have variable developmental delay, short stature, microcephaly, feeding problems, recurrent upper airway infection and various congenital malformations but lack the hallmark features of RTS including grimacing smile, broad thumb and/or broad halluces. Initially described as atypical RTS, the condition was later revised as Menke-Hennekam syndrome (MHS). To date, less than 30 affected individuals were identified worldwide. In this case report, we wish to illustrate a patient suffering from molecularly confirmed MHS who presented with developmental delay, failure to thrive, undescended testis, scoliosis, inguinal and umbilical hernia.