Figure 6. Craniofacial features associated with 22q11.2 deletion syndrome.

Patients with 22q11.2 deletion syndrome (22q11.2DS), shown here from infancy through to adulthood, demonstrate variability of associated craniofacial features — most with few recognizable dysmorphia (part a). A person with 22q11.2DS has a 50% recurrence risk with each pregnancy for this microdeletion syndrome, but some adults only come to attention following the diagnosis in a child with associated features, as in these unrelated nuclear families (daughter and father (part b) and son and mother (part c)). When viewed individually, some craniofacial features provide important clues to the diagnosis, for example, microstomia and asymmetric crying facies (part d), and malar flatness and micrognathia (part e). External eye findings (part f) may include upslanting palpebral fissures and hypertelorism (1), hooded eyelids and/or ptosis (2) and mild epicanthal folds (3). Nasal features (part g) may include a bulbous nasal tip with hypoplastic alae nasi (4) often with a nasal dimple or crease with or without a faint haemangioma (5). Auricular differences (part h) frequently include thick overfolded, squared-off and crumpled helices, microtic, cupped or posteriorly rotated ears, attached lobes and preauricular pits or tags (arrows).