PMC3447228_01
(a)-(h) Phenotype of the child at 62 days age.
CRIM.GENETICS2011-396450.001.jpg
PMC3447228_01_CRIM.GENETICS2011-396450.001.jpg
fig1
The child had significant facial dysmorphic features, including flat facial profile, large fontanelle, coronal and sagital craniosynostosis, fontal prominence, flat occiput, short neck, upward slanting of eyes, hypertelorism, epicanthal fold, low set ears, left ear closed with deformed pinna, depressed nasal bridge, open mouth, high arched palate, glossoptosis micrognathia, broad philtrum, protrudent abdomen, micropenis, left-sided hydrocoele, hypotonia, increased gap between 1st and 2nd toe, atrial septal defect (ASD), Simian-like crease in right hand, and ambiguous genitalia (Figure 1).