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• W3207528530 abstract "Chondrodysplasia punctata (CDP) is a heterogeneous group of conditions that share radiological features of epiphyseal stippling and midfacial hypoplasia (MFH) or Binder's facies. It is yet unclear if isolated MFH is a benign finding or represents mild forms of CDP. We aimed to study prenatal ultrasound (US) features in fetuses with MFH and CDP. In this retrospective study, 62 fetuses diagnosed with MFH (nasofrontal angle > 140°) in the 2nd/3rd trimester were reviewed. In all cases, we recorded US findings of epiphyseal stippling, premature calcaneal and talar calcification, coccygeal ossification and vertebral clefts. Maternal history for any drug intake (warfarin/ phenytoin), maternal autoimmune disease and hyperemesis gravidarum were noted. Genetic tests and pregnancy outcomes, where available, were retrieved from hospital records. These included karyotype and chromosomal microarray (CMA) in isolated MFH and clinical-exome sequencing (CES) in CDP. Of 62 fetuses with MFH, 41 had isolated MFH and 11 had features of CDP and 10 had non-skeletal abnormalities. Epiphyseal stippling was found in all CDP cases, with proximal femoral stippling being the most common (n = 10). Coccyx calcification was found in 5, Vertebral clefts, premature talar and calcaneal calcification in 2 fetuses. Eighteen karyotype and CMA reports among isolated MFH fetuses and 5 CES reports in CDP fetuses were available and reported normal. Maternal SLE was found in 1 CDP case. In the isolated MHA and CDP group, pregnancy was terminated in 13 and 6 cases, live births occurred in 14 and 1 case, and no data was available in 10 and 4 cases respectively. There were 4 ongoing pregnancies in isolated MHA group. High index of suspicion is needed in cases with MFH to identify CDP. Isolated MFH may appear to be a distinct entity, but more post-natal follow-up data is required to ascertain if they are milder forms of CDP. As prognosis in CDP depends on etiology, counselling is based on both maternal medical history and genetic testing." @default.
• W3207528530 created "2021-10-25" @default.
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• W3207528530 date "2021-10-01" @default.
• W3207528530 modified "2023-09-26" @default.
• W3207528530 title "VP10.01: Series of 62 cases of mid‐facial hypoplasia from Southern India: implications for prenatal diagnosis of chondrodysplasia punctata" @default.
• W3207528530 doi "https://doi.org/10.1002/uog.24154" @default.
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