Chondrodysplasia punctata (CDP) is a skeletal abnormality characterized by premature calcification that is usually noticeable in the prenatal period and infancy. Etiologically, the condition is heterogeneous, and the causes include fetal conditions such as chromosome abnormalities, peroxisomal disorders, lysosomal storage disorders, cholesterol synthesis defects and abnormal vitamin K metabolism, as well as maternal diseases such as severe malabsorption and exposure to teratogens. An association between CDP and maternal autoimmune disease was first observed and reported by Curry et al and Costa et al in 1993 and expanded by Chitayat et al in 2010. This review lists the clinical characteristics and radiologic findings of all cases reported to date in English and discuss the possible etiology of this interesting fetal finding.
What's Already Known About This Topic?
There are no publications linking prenatally detected hepatic arteriovenous malformations (AVM) with the diagnosis of hereditary hemorrhagic telangiectasia (HHT). To date only one case series reported symptomatic neonatal hepatic AVMs, none of which were detected prenatally.
What Does This Study Add?
We report two siblings with molecularly confirmed HHT who presented with symptomatic hepatic AVMs, one of which was detected prenatally. This report suggests that prenatal or neonatal hepatic AVMs merit evaluation for HHT.
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