Figure 1
From: Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual
Phenotype of the patient. ( A) Frontal view of the patient in the first week of life. ( B) Frontal view and right hand of the patient at the age of 2 years and 10 months; and ( C) at 3 years. ( D) Roentgenogram of the left hand at the age of 3 years and 6 months and ( E) left foot of the patient at the age of 3 years. Note typical CdLS facial features seen in our patient included synophrys, arched eyebrows, long eyelashes, depressed nasal bridge and anteverted nares, long and flat philtrum, thin upper lip, downslanting corners of the mouth, low set and posteriorly rotated ears and microbrachycephaly ( A- C). Several mild musculoskeletal anomalies were noted including small hands and feet ( D and E), clinodactyly of the fifth finger and proximally placed thumb ( D).