[Esophagitis as a complication of Sandifer's syndrome].
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Biomedical subjects
Publications and source records attributed to J Ryzko.
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Eighty-four colorectal polyps of up to 3.3 cm in diameter were removed with the diathermy snare during 48 colonoscopies on 42 children, aged 2 to 18 years (mean, 7.4 years). Most polyps were juvenile and the majority were located in the sigmoid colon (55%) or rectum (37%). No complications related to medication, colonoscopy, or snare polypectomy were observed. The two presenting symptoms, rectal bleeding and anemia, disappeared soon after polypectomy in all but one patient with adenomatous polyposis coli, subsequently operated upon. Follow-up examinations, including total colonoscopy, performed 4 months to 7 years (mean, 25 months) later did not reveal abnormalities in any of the 37 children whose previously removed polyps were juvenile. The authors conclude that endoscopic snare polypectomy is an effective and safe treatment for colorectal polyps in the pediatric age group.
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The authors describe three cases of familial acrocephalosyndactyly (ACS) in two boys (9 and 3 years of age) and in their 7.5-year old sister. In addition, irregularities in skull and limbs were found in the 46-year old father as well as in two other children, i.e., two girls, 14 and 4 years of age. The mother (46 years-old) and the remaining four 4 boys (12-, 9-, and 7-years-old), as well as the youngest child, a son, 1-year-old) did not show any deviations. The diagnosis of the Saethre-Chotzen syndrome in six members of one family was based on the finding of a typical skull deformation (oxybrachycephalia), low hairline, flattened nasofrontal angle, lateral deviation of the nasal septum, facial dysmorphy, prolapse of upper eyelids, antimongoloid placement of palpebral fissures, protruding eyes, hypertelorism, dysmorphy of auricles, imperfect hearing, highly arched palate, improper dentition, and characteristic skin syndactyly of hands and feet. In addition, deformed chest, weight and height deficiency, significant mental retardation, as well as, in the boys, true cryptorchidism were found. Radiological examination showed, in all affected members of the family, intensified digitate impressions within the whole fornix of the skull, large and deep sella turcica, underdeveloped frontal bone and upper jaw bone, untypical syndactyly of hands and feet, and the partial bifid of distal phalanges of the great toes, not described previously in the Saethre-Chotzen syndrome. In the differential diagnosis, other forms of ACS, i.e., Apert, Vogt, Pfeiffer, Summitt, and Herrmann-Opitz syndromes, were not found. Manifestation of the described symptoms transferred autosomally, dominantly, and with a similar degree of expression in 6 of 11 members of one family, leads us to think that they are the consequence of a fresh mutation revealed in the father.