Abstract |
We report on 3 persons in a 3-generation Brazilian family affected with complex limb defects. The spectrum of limb anomalies ranged from isolated toe syndactyly to severe bilateral tibial aplasia. Radioulnar synostosis was present in 2 of the 3 patients. Clinical and genetic aspects are discussed.
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Authors | A Richieri-Costa, E de Miranda, T Y Kamiya, D V Freire-Maia |
Journal | American journal of medical genetics
(Am J Med Genet)
Vol. 36
Issue 1
Pg. 1-6
(May 1990)
ISSN: 0148-7299 [Print] United States |
PMID | 2333896
(Publication Type: Case Reports, Journal Article)
|
Topics |
- Abnormalities, Multiple
(genetics)
- Adult
- Child
- Female
- Foot Deformities, Congenital
(genetics)
- Genes, Dominant
- Hand Deformities, Congenital
(genetics)
- Humans
- Male
- Pedigree
- Syndrome
- Tibia
(abnormalities)
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