Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing

Figures

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  Figure 1. A representation of the different FBN1 variants in 36 index patients is shown.

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  Figure 2. Photographs of patient 10 with the homozygous variant c.2861G > A, p.(Arg954His) in FBN1. He had normal stature (0.01 z) at 5 years 8 months of age with long face, exotropia of right eye, thin vermilion of upper lip (a–c), normal fingers (d) and pes planus (e).

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  Figure 3. Facial photographs of patients with LDS show long faces, widely spaced eyes, downslanted palpebral fissures, thin vermilion of upper lips and micrognathia in all of them (a–h). Additionally, low set ears (b–d), ptosis (b) and wide mouth with downturned corners (d) were noted. Photographs were taken at ages: 7 months (a: Patient 44), 6 years (b: Patient 39 and c: Patient 40), 8 years (d: Patient 42), 9 years (e: Patient 45 and f: monozygotic twin of Patient 45), 16 years (g: Patient 41) and 36 years (h: Patient 43).

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  Figure 4. Clinical photographs of patients with SGS. Craniosynostosis, dolichostenomelia, low-set ears, overfolded ear helix, proptosis, downslanted palpebral fissures, hypertelorism, proptosis, alternative exotropia, vertical strabismus of left eye, microcornea, depressed nasal bridge, underdeveloped cheekbone, thin vermilion of upper lip, micro-retrognathia, pectus carinatum and kypho-scoliosis can be noted in patient 37 at age 13.5 years (a, b). He also had long and narrow fingers with camptodactyly (c), long and narrow feet with camptodactyly, pes planus and metatarsus adductus (d). The second patient (Patient 38), at 3 months of age, shows wide anterior fontanel, long ears, hairy pinnae, excess scalp skin, short and downslanted palpebral fissures, hypertelorism, depressed nasal bridge, inverted V shaped upper lip with think vermilion (e, f), long and narrow fingers (g) and bilateral talipes equinovarus (h).