ArticleJournal of medical ultrasound
Prenatal Diagnosis of X-Linked Chondrodysplasia Punctata 2 Presented with Calcific Stippling in Ribs and Postaxial Polydactyly Identified in the First Trimester: A Case Report.
Article in Journal of medical ultrasound. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
X-linked chondrodysplasia punctata 2 (CDPX2) is a genetic disorder characterized by skeletal, cutaneous, and ophthalmic abnormalities. In this study, we present with a fetal case of CDPX2 which was identified in the first trimester by ultrasound and was confirmed by molecular diagnosis. The 12-week ultrasound revealed that nearly the entire thorax exhibited irregular rib-like stippling in the four-chamber view with postaxial polydactyly in the right hand. A follow-up ultrasound at 16+1 weeks demonstrated persistent findings along with evidence of a narrow thorax and shortened limbs. Trio exome sequencing identified a
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