Figure 1.

(a) Pedigree of the family wt, wild‐type; m: c.273_283delinsA mutation in the RBM10 gene. (b) Direct sequencing electropherograms of part of exon 4 in the RBM10 gene in the index patient (II.2), the mother (I.1), and a sister (II.1). The electropherogram of I.1 suggests mosaicism. (c–e) Photographs of the index patient. Features include wide mouth, sloping forehead, prominent nasal bridge, prominent nose, thick eyebrows, prominent supraorbital ridge, high and narrow palate, alveolar ridge overgrowth, chin dimple, and micrognathia. Upper front teeth are missing because of trauma. The black bars covering the eyes are by request of the legal guardian of the patient [Color figure can be viewed at wileyonlinelibrary.com]