Figure 1.
Dysmorphic features of the patient. (A, C) Coarse and round expressionless face, sloping forehead, low-set posterior and high-set anterior hairline with diffuse hypotrichosis and a short neck which is everted and slightly low-set with posteriorly rotated ears. (C, E) Hypertelorism and arched sparse eyebrows, mainly in the lateral third with narrow down-slanting palpebral fissures, ptosis and periorbital fullness, with broad nasal bridge and tip with uplifted and slightly thickened alae nasi, squared nostrils, smooth philtrum, down-turned tent-shaped vermilion of the upper lips that tapered distally and fulleverted lower lip, retrognathia with groove of the chin and down-turned corners of the mouth, mandibular hypoplasia, crowding and misalignment of small and morphologically abnormal teeth, and disproportional head size compared to the trunk. (B) Short stature, broad chest with sloping shoulders and rhizomelic shortening of the extremities; in the standing posture, the patient demonstrates a mildly wide base while leaning slightly forward. (D) Broad and short hands with brachydactyly and contraction of proximal interphalangeal joints of the fourth and fifth fingers bilaterally.