[Heterogeneity of Seckel syndrome? Apropos of a case].
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Biomedical subjects
Publications and source records attributed to Y Castel.
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In a newborn, the presence of an abdominal tumor due to hydrocolpos resulting from vaginal atresia, with polydactyly and a congenital heart disease suggest the diagnosis of McKusick-Kaufman syndrome. This syndrome is different from the Ellis Van Creveld syndrome, which also includes polydactyly and congenital heart disease, associated with "chondrodysplasia' and "ectodermodysplasia'.
Kala-Azar or visceral "leishmanisis" is a Mediterranean parasitosis. Outside this area, the reported cases concern children having lived in an endemic area. Real autochtonous Kala-Azar is really exceptional in France. The authors report a case in a 18 month-old child, who had never left the city of Brest. The authors study similar observations in the literature, including an analysis of the different modes of transmission in such cases.
A child with the 49 XXXXY syndrome is presented. Diagnosis was possible early in life, because of craniofacial anomalies and congenital cardiac malformations. The main symptoms are growth retardation, craniofacial abnormalities, hypogonadism, frequent bone lesions and severe mental retardation.
The existence in a new-born child of post-axial polydactyly, associated with an abdominal tumor due to hydrocolpos, because of a low vaginal atresia, and with congenital heart-disease, recalls the diagnosis of the McKusick-Kaufman syndrome. This syndrome must be differentiated from the Ellis-Van Creveld syndrome, which also includes polydactyly and congenital heart disease, associated with a "chondrodysplasis" and an "ectodermodysplasia".
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One case of atresia of the common pulmonary vein is discussed at the light of the few reports found in the literature. The presence of criteria distinguishing this type of obstacle to pulmonary venous return from the other cases, is of practical diagnostic interest; indeed, its diagnosis leads to surgical intervention, theoretically curative.