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Esophageal atresia with distal tracheoesophageal fistula in a patient with fronto-metaphyseal dysplasia

✍ Scribed by Franceschini, P.; Guala, A.; Licata, D.; Franceschini, D.; Signorile, F.; Di Cara, G.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 40 KB
Volume: 73
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19971128)73:1<10::aid-ajmg3>3.0.co;2-t

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✦ Synopsis

Fronto-metaphyseal dysplasia (FMD) is an uncommon but clinically striking condition affecting bone and connective tissue. The terms used to define this syndrome fail to cover all the reported findings, the abnormalities not being confined to the metaphyses and to the frontal bones. We report on a patient who, in addition to the clinical manifestations characteristic of the syndrome, showed esophageal atresia with distal tracheoesophageal fistula. Particular emphasis is given to the extraskeletal manifestations of the syndrome reported in the literature.

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