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.
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Authors | W Courtens, S Levi, F Verbelen, A Verloes, E Vamos |
Journal | American journal of medical genetics
(Am J Med Genet)
Vol. 73
Issue 1
Pg. 55-60
(Nov 28 1997)
ISSN: 0148-7299 [Print] United States |
PMID | 9375923
(Publication Type: Case Reports, Journal Article, Review)
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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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