RESUMO
This report describes a nine-year-old girl with a spondylolisthesis of the C2 vertebra allowing 14 mm of slip. Her father had very similar vertebral anomalies.
Assuntos
Vértebra Cervical Áxis , Espondilolistese/genética , Vértebra Cervical Áxis/diagnóstico por imagem , Criança , Feminino , Humanos , Radiografia , Espinha Bífida Oculta/diagnóstico por imagem , Espinha Bífida Oculta/genética , Espondilolistese/diagnóstico por imagem , Espondilólise/diagnóstico por imagem , Espondilólise/genéticaRESUMO
We describe a 19-year-old male with a previously unrecognized form of disproportionate short stature, tracheobronchial malacia, and progressive scoliosis and his 28-year-old sister with the same but milder condition. The clinical characteristics were short limbs and digits and thoracolumbar scoliosis. Bone films showed progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. The vertebrae and the intervertebral plates were only mildly affected in spite of marked scoliosis. Trachea and bronchi were reinforced with surrounding acrylate mesh before surgical treatment of the scoliosis. Affected sibs of both sexes and healthy parents suggest an autosomal recessive mode of inheritance.
Assuntos
Brônquios/anormalidades , Exostose Múltipla Hereditária/genética , Escoliose/congênito , Traqueia/anormalidades , Anormalidades Múltiplas/genética , Adulto , Brônquios/cirurgia , Exostose Múltipla Hereditária/diagnóstico por imagem , Feminino , Genes Recessivos , Humanos , Masculino , Radiografia , Escoliose/cirurgia , Traqueia/cirurgiaAssuntos
Aminoácido Oxirredutases/deficiência , Doenças do Desenvolvimento Ósseo/genética , Doenças do Tecido Conjuntivo/genética , Cobre/metabolismo , Erros Inatos do Metabolismo dos Metais/genética , Proteína-Lisina 6-Oxidase/deficiência , Adulto , Criança , Fibroblastos/enzimologia , Humanos , Instabilidade Articular/genética , Masculino , Osso Occipital/anormalidades , SíndromeRESUMO
Human fetal membranes contain two new genetically distinct collagen polypeptide chains which are subunits of one (or two) new molecular species of collagen. These new polypeptide chains, which we have tentatively named alphaA and alphaB, have been directly compared with the polypeptide chain subunits of Types I, II, and III human collagen and Type IV collagen from bovine lens capsule. Both alphaA and alphaB exhibit characteristic profiles on carboxymethyl-cellulose chromatography and sodium dodecyl sulfate/polyacrylamide gel electrophoresis. The distribution of methionine residues along both new chains is different from known collagen chains as manifest by distinctly different cyanogen bromide peptide profiles on carboxymethyl-cellulose chromatography and/or sodium dodecyl sulfate/polyacrylamide gel electrophoresis. Both alphaA and alphaB exhibit contents of amino acids and glycine typical of collagens, and comparison with the observed and reported compositions of collagen chains of Types I-IV collagens reveals notable differences, particularly in the content of alanine, leucine, isoleucine, and the basic amino acids, lysine, hydroxylysine, and arginine. The new collagen species containing both alphaA and alphaB may be separated in the native (triple-helical) state from other native collagen species by differential salt precipitation. The observations that both chains coprecipitate in the same narrow NaCl range, and that the ratio of alphaA:alphaB is constant, suggest the possibility of a single new species of collagen with a subunit structure alphaA [alphaB]2.
