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

Am J Med Genet. 1997 Nov 28;73(1):10-4. doi: 10.1002/(sici)1096-8628(19971128)73:1<10::aid-ajmg3>;2-t.


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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Abnormalities, Multiple / physiopathology
  • Craniofacial Abnormalities* / physiopathology
  • Esophageal Atresia* / physiopathology
  • Hand Deformities, Congenital
  • Humans
  • Infant
  • Male
  • Osteochondrodysplasias / physiopathology
  • Skull / abnormalities
  • Spine / abnormalities
  • Tracheoesophageal Fistula* / physiopathology