case_images: PMC3512217_01
case_images: Depicting phenotypes of Case  1.
case_images: CRIM.GENETICS2012-878796.001.jpg
case_images: PMC3512217_01_CRIM.GENETICS2012-878796.001.jpg
case_images: fig1
case_images: PMC3512217_02
case_images: Facial feature of Case  2, (a) showing facial dysmorphism and (b) high arched palate and dental carries.
case_images: CRIM.GENETICS2012-878796.002.jpg
case_images: PMC3512217_02_CRIM.GENETICS2012-878796.002.jpg
case_images: fig2
case_images: The clinical examination of this patient revealed relative macrocephaly, prominent glabellas, narrow palpebral fissures, microophthalmia, microcornea, coloboma of iris, hypertelorism, low set ears, broad nasal root with high arched palate, hypodontia and dental caries (Figure 2).
case_images: Arrow showing deletion at chromosome 4p16.
case_images: CRIM.GENETICS2012-878796.003.jpg
case_images: PMC3512217_02_CRIM.GENETICS2012-878796.003.jpg
case_images: fig3
case_images: Parents were chromosomally normal confirming de novo origin in both cases (Figure 3).