RESUMO
Ellis-van Creveld syndrome (EVC) is an autosomal recessive disorder characterized by disproportionate dwarfism, polydactyly, and congenital heart disease. This rare disorder is found with increased frequency among the Old Order Amish community in Lancaster County, Pennsylvania. We have used linkage analysis to localize the gene responsible for the EVC phenotype in nine interrelated Amish pedigrees and three unrelated families from Mexico, Ecuador, and Brazil. We now report the linkage for the Ellis-van Creveld syndrome gene to markers on the distal short arm of human chromosome 4, with Zmax = 6.91 at theta = 0.02 for marker HOX7, in a region proximal to the FGFR3 gene responsible for the achondroplasia phenotype.
Assuntos
Cromossomos Humanos Par 4/genética , Síndrome de Ellis-Van Creveld/genética , Etnicidade/genética , Brasil/epidemiologia , Mapeamento Cromossômico , Consanguinidade , Equador/epidemiologia , Síndrome de Ellis-Van Creveld/etnologia , Genes Recessivos , Ligação Genética , Haplótipos/genética , Humanos , México/epidemiologia , Linhagem , Pennsylvania/epidemiologiaRESUMO
We reviewed the records of 28 patients with Marfan syndrome and 30 age-matched control patients with presumed isolated pectus excavatum to determine the outcome of surgical repair of the pectus deformity in Marfan syndrome. One third of the patients with Marfan syndrome underwent repair of the pectus excavatum before diagnosis. Of the 30 patients with "isolated" pectus excavatum, 17 had findings by history or physical examination, such as mitral valve prolapse, scoliosis, or a relative with pectus excavatum, suggestive of an underlying disorder of connective tissue. Pectus excavatum of more than moderate severity recurred in 11 of 28 patients with Marfan syndrome and was associated with young age at initial surgery and lack of temporary internal stabilization of the chest after surgery. Only two of the control patients had recurrence of the defect; one of these patients had findings suggestive of an underlying heritable disorder of connective tissue. We conclude that pectus excavatum may indicate the presence of an underlying heritable disorder of connective tissue such as the Marfan syndrome. In patients with Marfan syndrome, and possibly other inherited connective tissue disorders, surgical repair should be delayed if possible until skeletal maturity is nearly complete and should employ internal stabilization.
Assuntos
Tórax em Funil/cirurgia , Síndrome de Marfan/cirurgia , Adolescente , Adulto , Criança , Pré-Escolar , Humanos , Lactente , Síndrome de Marfan/complicações , Prontuários Médicos , Período Pós-Operatório , Prognóstico , RecidivaRESUMO
We studied prospectively 26 young patients with achondroplasia to test two hypotheses: that respiratory problems may be the result of occult spinal cord compression, and that achondroplastic patients with cord compression might have occult respiratory abnormalities. Respiratory abnormalities were present in 85%, the majority caused by a primary problem of the pulmonary system, such as small thoracic cage or obstructed airway. Three patients had hypoxemia, recurrent cyanotic spells, and episodes of respiratory distress explainable only by cervicomedullary cord compression; in each patient, respiratory problems were alleviated by decompressive surgery. Another six patients with cervicomedullary compression had, in addition, at least one primary pulmonary cause of respiratory problems. After decompressive surgery the respiratory problems improved in three and were unchanged in three. Reconstructed sagittal CT images proved the most sensitive technique for detecting craniocervical stenosis as a cause of cervicomedullary cord compression, although some degree of stenosis was present in nearly all of the patients.