单词 | acrocephalosyndactylism |
释义 | acrocephalosyndactylismacrocephalosyndactylism[‚ak·rə‚sef·ə·lō‚sin′dak·tə‚liz·əm]acrocephalosyndactylismacrocephalosyndactylyA family of autosomal dominant conditions caused by premature closure of cranial sutures resulting in a peaked head and facial dysmorphia.Management Surgery to correct skull and facial abnormalities. Acrocephalosyndactyly Type 1: Apert syndrome. Type 2: Apert-Crouzon syndrome; both are regarded as part of the same condition MIM 101200. Type 3: Chotzen or Saethre-Chotzen syndrome MIM 101400. Type 5: Pfeiffer syndrome MIM 101600. acrocephalosyndactylismA congenital malformation consisting of a pointed head and fusion of the fingers and toes. The condition is also known as Apert's syndrome. (Eugène Apert, French paediatrician, 1868–1940). |
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