Literature DB >> 1003450

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.   

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.

Entities:  

Mesh:

Year:  1976        PMID: 1003450      PMCID: PMC1013446          DOI: 10.1136/jmg.13.5.394

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  3 in total

1.  Inherited brachydactyly and hypoplasia of the bones of the extremities.

Authors:  D V HAWS
Journal:  Ann Hum Genet       Date:  1963-02       Impact factor: 1.670

2.  Brachydactyly with absence of middle phalanges and hypoplastic nails. A new hereditary syndrome.

Authors:  A Cuevas-Sosa; F García-Segur
Journal:  J Bone Joint Surg Br       Date:  1971-02

3.  Hereditary brachydactyly and hip disease. Unusual radiological and dermatoglyphic findings in a kindred.

Authors:  G C Robinson; B J Wood; J R Miller; J Baillie
Journal:  J Pediatr       Date:  1968-04       Impact factor: 4.406

  3 in total
  1 in total

1.  Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.

Authors:  Yanwei Sha; Ding Ma; Ning Zhang; Xiaoli Wei; Wensheng Liu; Xiong Wang
Journal:  BMC Med Genet       Date:  2019-08-01       Impact factor: 2.103

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.