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Failure of early prenatal diagnosis in classic achondroplasia

✍ Scribed by Hall, Judith G. ;Golbus, Mitchell S. ;Graham, C. Benjamin ;Pagon, Roberta A. ;Luthy, David A. ;Filly, Roy A. ;Optiz, John M.

Publisher: John Wiley and Sons
Year: 1979
Tongue: English
Weight: 274 KB
Volume: 3
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320030408

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✦ Synopsis

Case 1

A 29-year-old woman and her nonconsanguineous husband had achondroplasia. They requested prenatal diagnostic tests during her second pregnancy in view of the fact that her first pregnancy had ended at 33 weeks with the stillbirth of a male infant with apparent homc zygous achondroplasia [Hall et al, 19691. Roentgenographic examination of that fetus at 30 weeks gestation had demonstrated gross skeletal manifestations of presumed homozygous achondroplasia.

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