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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1976 Oct;13(5):394–398. doi: 10.1136/jmg.13.5.394

Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis.

V Ventruto, R Di Girlamo, B Festa, A Romano, G Sebastio, L Sebastio
PMCID: PMC1013446  PMID: 1003450

Abstract

A syndrome of brachydactyly (absence of some middle or distal phalanges), aplastic or hypoplastic nails, symphalangism (ankylois of proximal interphalangeal joints), synostosis of some carpal and tarsal bones, craniosynostosis, and dysplastic hip joints is reported in five members of an Italian family. It may represent a previously undescribed autosomal dominant trait.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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