PMC5640723_01
(A) Facial appearance of the patient at 3 years and 5 months showing the small and low-set ears with prominent anti-helix and (B) fetal pads in the fingers. (C) Facial appearance of the patient at 11 years of age. (D) Highlighted in gray the 600 Kb deletion at 10q26.3 region; a zoom in of the EBF3 gene in the DGV database reveals the existence of 3 deletions in 3 controls that affect the first 6 exons of EBF3 (NM_001005463); CNVs within this region found in control populations include deletions nvs825626 (present in 1/31 individuals), nvs552315 (present in 1/17421 individuals) and nsv552316 (present in 1/31 individuals). (E) The schematic representation of EBF3 transcripts.
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F1
She was first observed at the age of 3 years 5 months (Figures 1A,B), at which time she displayed muscle hypotonia, hypotonic face, strabismus, and reduced sensitivity to pain. She also presented mild dysmorphic features (Figure 1A): triangular face, small low-set ears with prominent anti-helix, arched eyebrows, anteverted nares, bulbous nasal tip, small mouth with downturned corners, pointed chin, short neck, and prominent finger fetal pads, as well as a mild short stature (89 cm, corresponding to around 2SD). The facial features were similar to those previously described, with spaced upper central incisors (Figure 1C); she had eyeglasses for strabismus and hypermetropia.