Figure 1

Clinical characteristics of CMH812. Several congenital abnormalities were found, including (A) microcephaly, facial dysmorphism (small and bird-like face, malar and mandibular hypoplasia, prominent nasal bridge and columella, downslanting palpebral fissures, small mouth and low set, posteriorly rotated ears) (B) short stature with shortened long bones but no evidence of dysplasia or craniosynostosis. No major anomalies were found on imaging of her abdomen, brain, brain vasculature or heart. Genitalia and pubertal development were normal. No malabsorption or pituitary or thyroid insufficiency was found. (C-D) Skin findings in CMH812, showing one hypo- and three hyperpigmented patches on the skin. Biopsy of the skin was performed but not diagnostic. Microscopic examination displayed focal parakeratosis and mild spongiosis.