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Frontometaphyseal dysplasia 2 associated with thoracic deformity, and pulmonary arterial hypertension: a case report and review of literature.
Sun Z, Xu Z, Sun J, Liu J, Ma H. Sun Z, et al. Arch Argent Pediatr. 2022 Dec;120(6):e278-e282. doi: 10.5546/aap.2022.eng.e278. Epub 2022 Nov 1. Arch Argent Pediatr. 2022. PMID: 36374066 Free article. Review. English, Spanish.
Frontometaphyseal dysplasia 2 (FMD2) is a rare disease caused by MAP3K7 gene mutation. ...
Frontometaphyseal dysplasia 2 (FMD2) is a rare disease caused by MAP3K7 gene mutation. ...
The infant skull: a vault of information.
Glass RB, Fernbach SK, Norton KI, Choi PS, Naidich TP. Glass RB, et al. Radiographics. 2004 Mar-Apr;24(2):507-22. doi: 10.1148/rg.242035105. Radiographics. 2004. PMID: 15026597 Review.
Skeletal dysplasias may manifest as a generalized decrease in calvarial density (hypophosphatasia, osteogenesis imperfecta), a generalized increase in calvarial density (osteopetrosis), or a focal increase in density (frontometaphyseal dysplasia). Diffusely decrease …
Skeletal dysplasias may manifest as a generalized decrease in calvarial density (hypophosphatasia, osteogenesis imperfecta), a generalized i …