释义 |
Dyggve-Melchior-Clausen syndrome Dyg·gv·e-Mel·chi·or-Clau·sen syn·drome (di-giv'ĕ mel'kē-ōr klaws'ĕn), [MIM*223800] a skeletal dysplasia that has some clinical resemblance to Morquio syndrome but without mucopolysacchariduria; characterized by mental retardation, short-trunk dwarfism, progressive sternal bulging, restricted joint mobility, waddling gait, and radiographic findings of irregular iliac crests and flattening of vertebral bodies; autosomal recessive inheritance. There is an X-linked form [MIM*304950].Melchior, Johannes Christian, Danish pediatrician, 1923-1995. Dyggve-Melchior-Clausen syndrome - see under Dyggve |