Literature DB >> 3300333

Prenatal ultrasound diagnosis of diastrophic dysplasia at 16 weeks.

T R Gollop, A Eigier.   

Abstract

We report on the prenatal ultrasound diagnosis of diastrophic dysplasia at 16 wk of gestation. The ultrasound examination showed abnormally short limbs and lateral projection on the thumbs. Radiological and histological studies confirmed the presence of diastrophic dysplasia in the aborted fetus.

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Year:  1987        PMID： 3300333     DOI： 10.1002/ajmg.1320270210

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  2 in total

1.  Diastrophic dysplasia: a case report.

Authors:  L Mehta; I C Verma; J P Soni; R U Singhania
Journal:  Indian J Pediatr       Date:  1992 Nov-Dec       Impact factor: 1.967

2.  Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers.

Authors:  J Hästbacka; R Salonen; P Laurila; A de la Chapelle; I Kaitila
Journal:  J Med Genet       Date:  1993-04       Impact factor: 6.318
  2 in total

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