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- W2073641036 abstract "Chondrodysplasia punctata (CDP) is a rare disorder with an estimated incidence of 1 : 100000 livebirths. It can be severe and life threatening or mild in expression. The condition is etiologically heterogeneous. A rare association of CDP is with maternal SLE. We describe a woman with active mixed connective tissue disease (MCTD) in whom all 3 of her pregnancies were affected (4 offspring). Two cases were diagnosed prenatally. Dizygotic (male, female) twins were born at 25 wks, both of whom were diagnosed with CDP at autopsy following NND in the NICU. The fetus was noted to have shortening (< 1st percentile) and bowing of the femurs on ultrasound examination at 17 wks. The characteristic epiphyseal calcifications of CDP were seen at 20 wks. Fetal fibroblast testing ruled out all known genetic causes of CDP. She delivered a healthy male infant at term with clinical and radiological evidence of CDP. That child is doing well at age 4. The fetus' 18 week scan was within normal limits. By 23 wks, fetal long bones were below the 5th percentile. Punctate ossifications, suggestive of CDP in multiple sites were seen. At 27 wks of gestation, fetal ascites and mild polyhydramnios developed. PPROM occurred at 29 wks of gestation and preterm delivery ensued. The baby became critically ill at 4 days of life and died in our NICU. We present an unusual and fascinating case of a woman with MCTD having 4 consecutive offspring diagnosed with CDP. This case supports an autoimmune etiology for this disorder http://www.interscience.wiley.com/jpages/0960-7692/suppmat/index.html This article contains supplementary material available via the Internet from the Journal http://www.interscience.wiley.com/jpages/0960-7692/suppmat/index.html Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article." @default.
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- W2073641036 date "2005-09-01" @default.
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- W2073641036 title "OC17.04: Just images: Four consecutive pregnancies affected by chondrodysplasia punctata in a woman with mixed connective tissue disease" @default.
- W2073641036 doi "https://doi.org/10.1002/uog.2098" @default.
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