MELC : KMLE 의학 검색 엔진 - 의학사전, 의학용어, 의학약어, 의학논문, 약품/의약품 검색

CancerWEB 영영 의학사전 맞춤 검색 결과 : 1 페이지: 1

Melchior syndrome	<syndrome> An osteochondrodysplasia that clinically resembles Morquio's syndrome, but without excretion of mucopolysaccharides; characterised by mental retardation, short stature, progressive sternal bulging, flattening of vertebral bodies and iliac crests, shortening of metacarpals, and changes in long bones; autosomal recessive inheritance, but there is an X-linked form. Dyskinesia, clearance of mucus is sluggish and bronchiectasis is prevalent and intractable. There is evidence that the defect lies in dynein, a protein in the cilia. The pattern of inheritance is apparently autosomal recessive however multiple versions may exist. (05 Mar 2000)

Melchior syndrome

<syndrome> An osteochondrodysplasia that clinically resembles Morquio's syndrome, but without excretion of mucopolysaccharides; characterised by mental retardation, short stature, progressive sternal bulging, flattening of vertebral bodies and iliac crests, shortening of metacarpals, and changes in long bones; autosomal recessive inheritance, but there is an X-linked form.
Dyskinesia, clearance of mucus is sluggish and bronchiectasis is prevalent and intractable. There is evidence that the defect lies in dynein, a protein in the cilia. The pattern of inheritance is apparently autosomal recessive however multiple versions may exist.
(05 Mar 2000)