Fig. 1.

( A ) (III.1) Triangular face, high forehead, thick eyebrows, arched and medial end broad; blepharophimosis, mild left side ptosis, telecanthus, wide nasal ridge (mild), small ala nasi, short smooth philtrum, low-set ears, small mouth, and micrognathia. ( B ) (III.2) Round face, high forehead, thick eyebrows, arched, wide nasal bridge, bilateral ptosis (left > right), blepharophimosis, downslanting eyes, telecanthus, hypertelorism, small nose, anteverted nostrils, somewhat thick ala nasi, long smooth philtrum, open mouth, micrognathia, and low-set ears. ( C ) Pedigree showing inheritance pattern and individual partial Sanger sequences show hemizygous variant, c.887G > A in exon 7 of MED12 in affected individuals (patients 1 and 2). Mother is heterozygous carrier for the variant whereas father has wild-type allele.