Literature DB >> 472236

Familial congenital bowing with short bones.

B D Hall, J W Spranger.   

Abstract

The case reports of 2 brothers with congenital bowing and short broad bones are discussed. In this apparently new familial bowing syndrome, the rhizometic portions of the limbs are more severely involved, particularly the femora. In early infancy the metaphyses are moderately flared and irregular, but these improve dramatically during childhood. Clinical abnormalities are limited primarily to the thorax. Prognosis appears good except for the persisting disproportionately short stature. These 2 patients may resemble one or both patients previously reported by Khajavi et al. under the label of short-limbed campomelic syndrome, normocephalic type (1).

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Year:  1979        PMID: 472236     DOI: 10.1148/132.3.611

Source DB:  PubMed          Journal:  Radiology        ISSN: 0033-8419            Impact factor:   11.105


  5 in total

Review 1.  International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Authors:  J Spranger
Journal:  Eur J Pediatr       Date:  1992-06       Impact factor: 3.183

2.  Kyphomelic dysplasia: the first 10 cases.

Authors:  P D Turnpenny; R A Dakwar; F N Boulos
Journal:  J Med Genet       Date:  1990-04       Impact factor: 6.318

3.  Radiology and histopathology of the bent limbs in campomelic dysplasia: implications in the aetiology of the disease and review of theories.

Authors:  U E Pazzaglia; G Beluffi
Journal:  Pediatr Radiol       Date:  1987

4.  Familial congenital bowing with short thick bones and metaphyseal changes, a distinct entity. Report of the clinical and radiological findings in two siblings.

Authors:  E Rezza; G Iannaccone; D Lendvai
Journal:  Pediatr Radiol       Date:  1984

5.  Kyphomelic dysplasia.

Authors:  I K Temple; E M Thompson; C M Hall; G Bridgeman; M E Pembrey
Journal:  J Med Genet       Date:  1989-07       Impact factor: 6.318

  5 in total

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