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Familial recurrence of achondroplasia

✍ Scribed by Fitzsimmons, J. S. ;Opitz, John M. ;Reynolds, James F.

Publisher: John Wiley and Sons
Year: 1985
Tongue: English
Weight: 300 KB
Volume: 22
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320220320

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## Abstract **BACKGROUND:** We report the familial recurrence of urethral stenosis/atresia in two sibling fetuses with bladder outlet obstruction, severe oligohydramnios, and pulmonary hypoplasia. Urethral obstruction in the fetus, when severe, results in a dilated urinary bladder (megacystis) and

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✍ Mettler, Gabrielle; Fraser, F. Clarke 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 8 KB 👁 2 views

Because of gonadal mosaicism, the risk of recurrence of achondroplasia in the sibs of achondroplastic children with unaffected parents is presumably higher than twice the mutation rate, but it has not been measured.

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risk to relatives of TEF patients to exhibit other VACTERL malformations.