case_images: PMC11135898_01
case_images: Patient pictures (A: frontal and B: lateral view of the patient, with dysmorphic signs: subtotal alopecia, prominent eyes, marked micrognathia and retrognathia, small beaked nose; C: image show thin lips and teeth crowding; D: full body view of the patient, with generalized joint stiffness with abnormal posture and decreased mobility; E, F, G: dermatological changes of the patient, with hypochromic patches, bone reabsorption in the terminal phalanges and dysplastic nails).
case_images: 1984-0462-rpp-42-e2022189-gf01.jpg
case_images: PMC11135898_01_1984-0462-rpp-42-e2022189-gf01.jpg
case_images: f1
case_images: At six year of age, the child had the following dysmorphic signs: subtotal alopecia, dysmorphic facies with prominent eyes, marked micrognathia and retrognathia, small beaked nose, teeth crowding and thin lips (Figures 1A, 1B and 1C), generalized lipodystrophy, narrow and sloping shoulders, generalized joint stiffness (Figure 1D), and bone reabsorption in the terminal phalanges (Figures 1E and 1F). In dermatological examination, atrophic skin, loss of cutaneous elasticity, hyperkeratosis, dermal calcinosis, and hyperpigmented and hypochromic patches were observed (Figures1D to 1G).
case_images: Exams result (A: cone-beam computed tomography images: hypoplasia of the mandible branch, with bilateral absence of the mandibular condyles and teeth crowding; B: radiographic findings: clavicle absent, with the presence of local amorphous bone mass confluent with the scapulae; C: humerus and shoulder joints with subluxation and major bone dysplasia; D: high hip dysplasia; E: left hip dysplasia; F: significant osteopenia and subcutaneous calcification; G: sequencing of the patient's genetic material and her parents).
case_images: 1984-0462-rpp-42-e2022189-gf02.jpg
case_images: PMC11135898_01_1984-0462-rpp-42-e2022189-gf02.jpg
case_images: f2
case_images: The computed tomography (CT) scan of the facial bones allowed the detection of hypoplasia of the mandible branch, with absence of the condyles bilaterally and teeth crowding (Figure 2A). Further radiographic exams revealed clavicles bilaterally absent with the presence of local amorphous bone mass confluent with the scapulae (fused acromioclavicular joints) (Figure 2B), humerus and sho ulder joints with subluxation and major bone dysplasia (Figure 2C), hip dysplasia (Figures 2D and 2E), significant osteopenia, and subcutaneous calcifications (Figures 2E and 2F). The analysis of the patient's parents confirmed the autosomal recessive transmission of the c.1579C> T mutation in exon 9 of the LMNA gene (Figure 2G).