PMC2840784_01
A 15-week-old male infant with Cornelia De Lange syndrome
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At presentation, the patient had confluent eyebrows that appeared arched and well-defined and bushy, long curly eyelashes, low front and back hairlines, small nose with low bridge, turned-up nose, down-turned angles of the mouth and thin lips, long philtrum, highly arched palate, small lower jaw and protruding upper jaw, microcephaly [Figure 1A], to wide Anterior and posterior fontanelles, excessive body hair, Cutis marmorata, facial hypertrichosis, and malformed pinnas [Figure 1B, C]. The patient had a low-pitched cry, umbilical hernia was seen when he cried, short neck, fixed flexion of both elbows [Figure 1D,E]. An X-ray of right hand showed ulnar agenesis and monodactyl [Figure 1F], but the X-ray of left hand showed that both forearm bones were normal, but there were three fingers.