We describe a 34-year-old woman with mental retardation, short stature, macrocephaly, a ''coarse'' face, hoarse voice, and redundant skin with deep palmar and plantar creases who had evident Costello syndrome. Lacking papillomata, she had wartlike lesions of the skin. The previously reported patient
Feingold syndrome: Report of a new family and review
β Scribed by Courtens, W.; Levi, S.; Verbelen, F.; Verloes, A.; Vamos, E.
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 41 KB
- Volume
- 73
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19971128)73:1<55::aid-ajmg11>3.0.co;2-q
No coin nor oath required. For personal study only.
β¦ Synopsis
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 β3 of the patients with Feingold syndrome. Am.
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