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Feingold syndrome: report of a new family and review.

Abstract
Feingold syndrome (or oculodigitoesophagoduodenal syndrome; Microcephaly, Mesobrachyphalangy, Tracheo-esophageal fistula syndrome) is a dominantly inherited combination of hand and foot abnormalities, microcephaly, esophageal/duodenal atresia, short palpebral fissures and learning disabilities, first reported in 1975 (MIM 164280). We report on the seventh family with Feingold syndrome. The propositus is a male infant with esophageal and duodenal atresia, brachymesophalangy of the fifth fingers, bilateral syndactyly of toes 4-5 (and 2-3), relative microcephaly, and facial anomalies. His mother also has microcephaly, similar facial appearance, short fifth fingers with single flexion crease, syndactyly of toes 4-5, and learning disabilities. The maternal sister, brother, and grandmother of the propositus have the same phenotype. The 7 families with Feingold syndrome are reviewed. Intestinal (esophageal/duodenal) atresia/obstruction occurs in approximately 1/3 of the patients with Feingold syndrome.
AuthorsW Courtens, S Levi, F Verbelen, A Verloes, E Vamos
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 73 Issue 1 Pg. 55-60 (Nov 28 1997) ISSN: 0148-7299 [Print] United States
PMID9375923 (Publication Type: Case Reports, Journal Article, Review)
Topics
  • Abnormalities, Multiple (genetics, physiopathology)
  • Adult
  • Duodenal Diseases (genetics)
  • Esophageal Atresia (genetics)
  • Face (abnormalities)
  • Female
  • Foot Deformities, Congenital (genetics)
  • Hand Deformities, Congenital (diagnostic imaging, genetics)
  • Humans
  • Infant, Newborn
  • Male
  • Pedigree
  • Radiography
  • Syndrome

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