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. 2019 Jul 25;105(3):631–639. doi: 10.1016/j.ajhg.2019.07.002

Figure 1.

Figure 1

Pedigrees of the Affected Individuals and Phenotypic Presentation

(A) Twelve unrelated families with DLL1 pathogenic variants. The DLL1 variants occurred de novo in families (F) 1, 6, 7, 9, 10, 11, and 12. The DLL1 variant co-segregated with the phenotype in F2 and F3. Inheritance is unknown due to lack of parenteral DNA samples for F4, F5, and F8.

(B) Radiographs of individual (I) 8 (F5/II-1 in A) at the age of 10 months demonstrate lumbar scoliosis (34°) due to a segmentation defect of the lumbar spine; the vertebral malformations included an incomplete fusion of the vertebral arch in L1, a right L2 hemivertebra, an abnormally shaped L3, and an asymmetric S1.

(C) Facial photographs of I7 (F4/II-1), I9 (F6/II-1), and I11 (F8/II-1) showing upslanted palpebral fissures and mild retrognathia (I7), a prominent forehead, upslanted palpebral fissures, epicanthal folds, broad and flat nasal bridge, full cheeks, everted upper lip, and full lips (I9) as well as upslanted palpebral fissures (I11).