All individuals with variants in gene MESDC2

7 entries on 1 page. Showing entries 1 - 7.
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00326448 Fam1 PubMed: Moosa 2019 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Brazil - 1y5m - - - OI see paper; ..., 1y5m-deceased (sepsis); birth 39w, weight 2,135 g (-2.35 SD), length 45 cm (−1.93 SD); prenatal fractures; bluish sclera; no dentinogenesis imperfecta; no hypermobility joints; patent foramen ovale with small left to right shunt; no hearing impairment; old fractures of extremities, no vertebral/thoracic cage fractures; retarded gross motor function 1 1 Johan den Dunnen
00326449 Fam2 PubMed: Moosa 2019 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Turkey - - - - - OI see paper; ..., birth 34w, weight 1,550 g (−2.8 SD), length 43 cm (−2.58 SD); no prenatal fractures; 11m-first fracture; white sclera; no eye abnormalities; no dentinogenesis imperfecta; disorganized dentition/clinical oligodontia; no hypermobility joints; slight conductive hearing loss due to adenoid hyperplasia; 5 old fractures of extremities, multiple fractures of vertebrae, ribs, both scapulae; retarded gross motor function 1 1 Johan den Dunnen
00326450 Fam3 PubMed: Moosa 2019 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Portugal - 17y - - - OI see paper; ..., 17y-deceased (respiratory arrest); birth 37w, weight 3,730 g (+0.38 SD), length 51 cm (+0.38 SD); no prenatal fractures; 24m-first fracture; white sclera; no eye abnormalities; no dentinogenesis imperfecta; disorganized dentition/clinical oligodontia; no hearing impairment; fractures 2y-right clavicle, 3y6m-left femur, 4y-right femur, vertebral compression fractures; retarded gross motor function 1 1 Johan den Dunnen
00326451 Fam4 PubMed: Moosa 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Brazil - - - - - OI see paper; ..., birth at term, weight 2,730 g (−1.35 SD), length 52 cm (+0.76 SD); no prenatal fractures; 24m-first fracture; white sclera; no eye abnormalities; no dentinogenesis imperfecta; disorganized dentition/clinical oligodontia, radiographic evidence of oligodontia; no hypermobility joints; old fractures of extremities, fractures vertebrae and ribs; retarded gross motor function 1 1 Johan den Dunnen
00326452 Fam5 PubMed: Moosa 2019 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Brazil - 7m - - - OI see paper; ..., 7m-deceased (respiratory arrest); birth 37w, weight 2,465 g (−1.73 SD), length 42 cm (−2.94 SD); prenatal fractures; bluish sclera; no eye abnormalities; no hypermobility joints; no cardiac impairments; old fractures fractures of both humeri, ribs, femur, and clavicle, multiple fractures ribs; retarded gross motor function 1 1 Johan den Dunnen
00434981 Pat1 PubMed: Ghosh 2023 - F no India South Indian >08y - - - OI20 - 1 1 Kim Worring
00466827 Pat114 PubMed: Tuysuz 2022 - - - Turkey - - - - - OI OI3 progressively deforming osteogenesis imperfecta 1 1 Johan den Dunnen
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