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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Freeman-Burian syndrome

Fig. 1

Child aged 1 year and 8 months with a typical presentation of Freeman-Burian syndrome (FBS). In addition to required features of microstomia, whistling-face appearance (pursed lips), H-shaped chin defect, prominent nasolabial folds, bilateral camptodactyly, ulnar deviation, metatarsus varus, and equinovarus, the patient exhibits numerous other craniofacial stigmata of FBS, including: blepharophimosis and blepharptosis, small nose, alar naris hypoplasia, lengthened phitrum, symmetrical midface hypoplasia, and micrognathia. Notice the child demonstrates age appropriate explorative behaviour indicative of normal cognition

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