Fig. 1: Clinical images of the patients and family trees.
From: Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum

A Patient 2 (II.2) from Family A at age 2.5 years. B Note the tented upper lip vermillion, her mask-like facies, and the high palate. C Pedigree of Family A. D Patient 3 (II.2) from Family B at age 5. Note the lack of head control, choreoathetoid arm movements, and muscular hypotonia causing slip through when held in vertical position under the armpits. E Pedigree of Family B. F, G Patient 4 (II.2) from Family C at age 4 years. Note severe dystrophy due to feeding difficulties and unavailability of gastric tube feeding, myopathic facies, and severe muscle weakness with frog-leg posture. Her brother (II.1) passed away from aspiration pneumonia and had a similar phenotype. H Pedigree of Family C. I, J Patient 5 from Family D, I shows the severe muscle hypotonia, J depicts the same patient at 6 years not able to stand independently. K Pedigree of Family D. L EEG from Patient 5 at age 6 years shows generalized epileptic activity. No clinical seizures were observed in a 24-h video EEG recording. The parents had never observed any type of fits or seizures.