Fig. 2 | Genetics in Medicine

Fig. 2

From: PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

Fig. 2

Clinical pictures of patient 1 at 3½ years (a), patient 2 at 11 months (b), patient 3 at 2½ years (c), patient 4 at 7 years (d), and patient 5 at 19 months (e). Sparse scalp hair, bitemporal narrowing, a high forehead, a long philtrum with closely placed philtral pillars, a tented mouth, full cheeks, a depressed nasal bridge, and a short nose in all patients is notable. Eyebrows were either straight (a–c) or arched (d, e). f Principal component analysis of gestalt scores from DeepGestalt of cases with disease-causing variant in PIGT, PIGN, PIGA, PIGV, and PGAP3. Facial gestalt of six of the novel patients (P-1 to P-5, and P-11) share a similar gestalt as previously published cases with variants in genes of the same subgroup PIGT, PIGA, and PIGN (MCAHS). 1- and 2-SD ellipses are drawn around the centroids of the clusters. HPMRS hyperphosphatasia with mental retardation syndrome, MCAHS multiple congenital anomalies–hypotonia–seizures syndrome.

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