Deletion in the chromosome 7q34q36.3-encompassing gene SHH was identified in cases 26 and 27; SHH is involved in the organization and morphology of the developing embryo and is known to be a key gene in craniofacial abnormalities such as microcephaly, hypotelorism, midface hypoplasia, and cleft lip/palate [20]. Here, SHH is linked to microcephaly.