Pfeiffer syndrome

[fi´fer] a hereditary autosomal dominant disorder characterized by conical deformity of the head, extra fingers and toes, webbed fingers and toes, and broad short thumbs and big toes. Called also acrocephalosyndactyly type V and acrocephalopolysyndactyly type I.

Pfeif·fer syn·drome

(fī'fĕr), [MIM*101600] disorder characterized by broad, short thumbs and great toes, often with duplication of the great toes, and variable syndactyly of the digits; craniosynostosis is a variable feature. Autosomal dominant inheritance, caused by mutation in the fibroblast growth factor receptor 1 gene (FGFR1) on chromosome 8p or FGFR2 gene on 10q. Synonym(s): acrocephalosyndactyly type V, Noack syndrome

A condition characterised by a deformity of the cranial vault in which a frontal film demonstrates a tri-lobed appearance caused by premature closure of the sutures, which is accompanied by hydrocephaly
Aetiology Thanatophoric dwarfism [MIM 148800], accompanied by a prominent forehead, depressed nasal bridge, shortened limbs, bowing of femora, epiphyseal cupping, flattened vertebral bodies, achondroplasia-like pelvis, often, but not invariably, associated with mental retardation

Pfeif·fer syn·drome

(fī'fĕr sin'drōm) Variable syndactyly of the fingers and toes; craniosynostosis is a variable feature.
Synonym(s): Noack syndrome.

Pfeiffer,

Richard F.J., German physician, 1858-1945. Pfeifferella - an obsolete genus of bacteria.Pfeiffer bacillus - a species found in the respiratory tract that causes acute respiratory infection, acute conjunctivitis, bacterial meningitis, and purulent meningitis. Synonym(s): Haemophilus influenzaePfeiffer blood agar - solid agar, with a few drops of human blood smeared on the surface.Pfeiffer phenomenon - bacteriolysis.Pfeiffer syndrome - Synonym(s): type V acrocephalosyndactyly

单词	pfeiffer syndrome
释义	DictionarySeesyndrome Pfeiffer syndrome Pfeiffer syndrome [fi´fer] a hereditary autosomal dominant disorder characterized by conical deformity of the head, extra fingers and toes, webbed fingers and toes, and broad short thumbs and big toes. Called also acrocephalosyndactyly type V and acrocephalopolysyndactyly type I. Pfeif·fer syn·drome (fī'fĕr), [MIM101600] disorder characterized by broad, short thumbs and great toes, often with duplication of the great toes, and variable syndactyly of the digits; craniosynostosis is a variable feature. Autosomal dominant inheritance, caused by mutation in the fibroblast growth factor receptor 1 gene (FGFR1) on chromosome 8p or FGFR2* gene on 10q. Synonym(s): acrocephalosyndactyly type V, Noack syndrome A condition characterised by a deformity of the cranial vault in which a frontal film demonstrates a tri-lobed appearance caused by premature closure of the sutures, which is accompanied by hydrocephaly Aetiology Thanatophoric dwarfism [MIM 148800], accompanied by a prominent forehead, depressed nasal bridge, shortened limbs, bowing of femora, epiphyseal cupping, flattened vertebral bodies, achondroplasia-like pelvis, often, but not invariably, associated with mental retardation Pfeif·fer syn·drome (fī'fĕr sin'drōm) Variable syndactyly of the fingers and toes; craniosynostosis is a variable feature. Synonym(s): Noack syndrome. Pfeiffer, Richard F.J., German physician, 1858-1945. *Pfeifferella* - an obsolete genus of bacteria.Pfeiffer bacillus - a species found in the respiratory tract that causes acute respiratory infection, acute conjunctivitis, bacterial meningitis, and purulent meningitis. Synonym(s): Haemophilus influenzaePfeiffer blood agar - solid agar, with a few drops of human blood smeared on the surface.Pfeiffer phenomenon - bacteriolysis.Pfeiffer syndrome - Synonym(s): type V acrocephalosyndactyly
随便看	put something behind someone put (something) behind (someone or something) put something behind you put (something) by put something by put something down as put (something) down in black and white put something down in black and white put (something) down in writing put something down in writing put (something) (down) on paper put something down on paper put (something) down to experience put something down to experience put something down to something put (something) down to (something else) put something first put (something) forth put something forth put something forward put (something) in put something in put something in a hole put something in an awkward position put something in a nutshell