Literature DB >> 15973030

Bruck syndrome.

Vikram Datta1, Aditi Sinha, Arvind Saili, Sushma Nangia.   

Abstract

The combination of arthrogryposis multiplex congenita and osteogenesis imperfecta is extremely rare. This combination is named Bruck syndrome. A 34 week male baby weighing 1.7 kg at birth was noted to have multiple flexion contractures and pterygia at elbows, wrists and knees, in addition to right foot talipes equinovarus deformity. Postnatally the child developed multiple swellings involving both the upper and lower limbs. A plain radiograph revealed the presence of fractures involving the long bones of the upper and lower limbs. A diagnosis of osteogenesis imperfecta with arthrogryposis multiplex congenita was made, and the patient was labeled as a case of Bruck Syndrome. The aim of this report is to make the readers aware regarding this rare entity and to specifically look for presence of features suggestive of osteogenesis imperfecta when encountered with a neonate born with arthrogryposis multiplex congenita.

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Year:  2005        PMID: 15973030     DOI: 10.1007/BF02731745

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


  2 in total

1.  OSTEOGENESIS IMPERFECTA WITH ARTHROGRYPOSIS MULTIPLEX CONGENITA.

Authors:  N L SHARMA; J S ANAND
Journal:  J Indian Med Assoc       Date:  1964-08-01

2.  Defective collagen fibril formation and mineralization in osteogenesis imperfecta with congenital joint contractures (Bruck syndrome).

Authors:  R E Brenner; U Vetter; H Stöss; P K Müller; W M Teller
Journal:  Eur J Pediatr       Date:  1993-06       Impact factor: 3.183

  2 in total
  3 in total

1.  Arthrogryposis multiplex congenita in a child with congenital fractures: a case report.

Authors:  Kavinda Dayasiri; Heshan Jayaweera
Journal:  J Med Case Rep       Date:  2022-10-19

Review 2.  Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity.

Authors:  E A Anum; L D Hill; A Pandya; J F Strauss
Journal:  Placenta       Date:  2009-01-18       Impact factor: 3.481

Review 3.  The ever-expanding conundrum of primary osteoporosis: aetiopathogenesis, diagnosis, and treatment.

Authors:  Stefano Stagi; Loredana Cavalli; Salvatore Seminara; Maurizio de Martino; Maria Luisa Brandi
Journal:  Ital J Pediatr       Date:  2014-06-07       Impact factor: 2.638

  3 in total

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