Analysis of the siblings from family F. ( A ) The male patient F (note the tower skull, frontal bossing, antimongoloid slant, epicanthus, wide nasal bridge, large nose, anteverted nostrils, and low-set ears). ( B ) The pedigree plot for family F; the solid square and circle represent the affected siblings. ( C ) The female patient F (note the microcephaly, long face, epicanthus, wide nasal bridge, and short philtrum). ( D ) The CNTN6 deletion in the male patient F. ( E ) Real-time PCR analysis of CHL1, CNTN6, and CNTN4, which revealed two copies of CHL1, a deletion of CNTN6, and two copies of CNTN4 in both patients, respectively. ( F ) The CNTN6 deletion in the female patient F.