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1. 致死性骨格異形成症の出生前診断approach to prenatal diagnosis of the lethal skeletal dysplasias [show details]
…renal abnormalities, limb abnormalities), campomelic dysplasia, and chromosome abnormalities. Hypoplastic or absent scapula is commonly noted in campomelic dysplasia but may also occur in Cousin syndrome …
2. 先天異常：疫学、種類、パターンbirth defects epidemiology types and patterns [show details]
…– Conotruncal heart defects in DiGeorge syndrome caused by deletions of T-box 1 (TBX1) , campomelic dysplasia (a rare skeletal dysplasia caused by mutations in SRY-box 9 gene [SOX9]) Fibroblast growth…
3. 性分化疾患の原因causes of disorders of sex development [show details]
…these mutations are associated with clinical abnormalities in nonreproductive organs (eg, campomelic dysplasia with mutations in SOX9). Gain-of-function mutations in NR0B1 – Duplications of NR0B1 (DAX1)…
4. 先天異常：評価アプローチbirth defects approach to evaluation [show details]
…association, Robinow syndrome, Smith-Lemli-Opitz syndrome) Sex reversal (campomelic dysplasia; 46,XY patients with campomelic dysplasia commonly have female genitalia development with failure to differentiate…
5. 非定型生殖器（性分化疾患）を有する乳児の評価evaluation of the infant with atypical genitalia disorder of sex development [show details]