Supplementary Figure 1: Syndromic features of human SMARCD2 deficiency. | Nature Genetics

Supplementary Figure 1: Syndromic features of human SMARCD2 deficiency.

From: Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes

Supplementary Figure 1

(a–d) Phenotype of patient AII.1. (a,b) Low-set, posteriorly rotated, simple ears, with prominent concha and broad incisura intertragica. (c) Hallux valgus (filled arrowhead) and plantar hyperkeratosis of left foot (empty arrowhead). (d) Sandal gap/increased interdigital space D1–D2 (asterisk) and dorsal feet hyperkeratosis D1 (filled arrowhead). (e–l) Phenotype of patient BII.1. (e,f) Thin hair, ear with dysplastic helix, neck with buffalo hump, and acanthosis nigricans. (g) Misaligned, dysplastic teeth, incomplete amelogenesis imperfecta (filled arrowhead), and accessory teeth in gingival plicae (empty arrowheads). (h,i) Features of metabolic syndrome and pubertas praecox vera, (j) Brachytelephalangy, longitudinal ridges on finger nails, and keratosis pilaris on forearm. (k) Bulging of right humerus diaphysis (empty arrowhead) and osteochondroma (filled arrowhead). (l) Increased interdigital space D1–D2 (asterisk), dorsal feet hyperkeratosis D1, D2 left (filled arrowhead), brittle (5th) nail (empty arrowhead), and pes planus. Images have been partially cropped.

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