The authors describe on a Brazilian girl with coronal synostosis, facial 
asymmetry, ptosis, brachydactyly, significant learning difficulties, recurrent 
scalp infections with marked hair loss, and elevated serum immunoglobulin E. 
Standard lymphocyte karyotype showed a small additional segment in 
7p21[46,XX,add(7)(p21)]. Deletion of the TWIST1 gene, detected by Multiplex 
Ligation Probe-dependent Amplification (MPLA) and array-CGH, was consistent with 
phenotype of Saethre-Chotzen syndrome. Array CGH also showed deletion of four 
other genes at 7p21.1 (SNX13, PRPS1L1, HD9C9, and FERD3L) and the deletion of 
six genes (CACNA2D2, C3orf18, HEMK1, CISH, MAPKAPK3, and DOCK3) at 3p21.31. Our 
case reinforces FERD3L as candidate gene for intellectual disability and 
suggested that genes located in 3p21.3 can be related to hyper IgE phenotype.