ABSTRACT
In this case we describe a fatal condition of esophagopericardial fistula secondary to barogenic rupture of the esophagus. The review of the literature disclosed only one fatal case (reported in 1968) of esophagopericardial fistula attributed to barogenic rupture of the esophagus. Early diagnosis and adequate treatment including pericardiocentesis along with intermittent drainage of the pericardium, full-course antibiotic therapy and a timely, well-planned surgical intervention will substantially improve the prognosis in this type of pathology. Patients similar to our case should be treated with either surgical bipolar esophageal exclusion (conservative disconnection) or esophagectomy combined with large drainage of the pericardial and mediastinal spaces. This case report reinforces the complexity of the diagnosis, and perhaps the need for clinical awareness and the inclusion of this entity in a differential diagnosis.
Subject(s)
Athletic Injuries/surgery , Barotrauma/surgery , Bicycling/injuries , Esophageal Fistula/surgery , Esophagus/injuries , Fistula/surgery , Pericardium/surgery , Adult , Athletic Injuries/diagnosis , Athletic Injuries/pathology , Barotrauma/diagnosis , Barotrauma/pathology , Cardiac Tamponade/diagnosis , Cardiac Tamponade/pathology , Cardiac Tamponade/surgery , Esophageal Fistula/diagnosis , Esophageal Fistula/pathology , Esophagus/pathology , Esophagus/surgery , Fatal Outcome , Fistula/diagnosis , Fistula/pathology , Humans , Male , Pericardium/pathology , RuptureSubject(s)
Metacarpus/abnormalities , Toes/abnormalities , Adult , Chromosome Aberrations/genetics , Chromosome Disorders , Female , Genes, Dominant , Humans , Infant, Newborn , SyndromeABSTRACT
Se describe una familia que presento en un progenitor braquidactilia tipo "E" y en una hija polidactilia postaxial tipo "A".Esta observacion confirma una disostosis autosomica dominante heterogenea caracterizada por braquidactilia polisindactilia, descrita por Holt, cuyo nombre se propone para designar el sindrome
Subject(s)
Infant, Newborn , Humans , Abnormalities, Multiple , ExtremitiesABSTRACT
Three sisters with 3-M slender-boned nanism are described. The main features were low birth weight, disproportionate dwarfism, large head for height, triangular-shaped face with wide anteverted nostrils, long philtrum and full lips, short neck, elbow malformation, pes planus with prominent heels, slender bones with thin diaphyses, small pelvis, and mild mental deficiency. Comparative analysis with the eight other cases reported in the literature permits further clinical delineation and the corroboration of autosomal recessive inheritance.
Subject(s)
Dwarfism/genetics , Fetal Growth Retardation , Adolescent , Bone and Bones/diagnostic imaging , Child, Preschool , Dwarfism/diagnosis , Dwarfism/diagnostic imaging , Female , Humans , Pregnancy , RadiographySubject(s)
Cherubism/genetics , Adolescent , Adult , Child , Chromosome Aberrations , Chromosome Disorders , Female , Humans , Male , Malocclusion/etiology , Mandible/diagnostic imaging , Pedigree , RadiographyABSTRACT
Two unrelated males of 16 and 8 years of age with acrodysostosis were studied. They showed short stature, broad and hypoplastic nose and severe acromelic shortness. X-ray studies revealed bilateral brachymetacarpaly, brachymetatarsalia and brachyphalangia with hyperplasia of the first ray in hands and feet. Psychometric studies revealed an IQ of 85, the highest observed in the 22 cases so far reported. The variable expressivity of the syndrome is discussed on this basis. The hypothesis of an autosomal dominant "de novo" mutation as the cause of the entity is supported by the finding of increased paternal age.
