PMC3512217_01
Depicting phenotypes of Case  1.
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fig1
PMC3512217_02
Facial feature of Case  2, (a) showing facial dysmorphism and (b) high arched palate and dental carries.
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fig2
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).
Arrow showing deletion at chromosome 4p16.
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fig3
Parents were chromosomally normal confirming de novo origin in both cases (Figure 3).