Figure 1.
A patient with BCL11A haploinsufficiency due to de novo p.Glu485X variant. Patient at age 4 months (A) and at age 3 years and 6 months (B). Facial features included strabismus divergens, mild left ptosis, flat midface, flat philtrum, thin upper lip, and protruding ears with thin, flat helixes, and attached earlobes. (C) A muscular build and instable gait present at 3 years and 6 months. (D) Head circumference evolved from −2.5 SD up to the age of 3 years to within normal range at 7 years.

A patient with BCL11A haploinsufficiency due to de novo p.Glu485X variant. Patient at age 4 months (A) and at age 3 years and 6 months (B). Facial features included strabismus divergens, mild left ptosis, flat midface, flat philtrum, thin upper lip, and protruding ears with thin, flat helixes, and attached earlobes. (C) A muscular build and instable gait present at 3 years and 6 months. (D) Head circumference evolved from −2.5 SD up to the age of 3 years to within normal range at 7 years.

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