Prenatal Phenotype of a Heterozygous Missense CHD4 Variant in a Fetus With Widened Cerebral Subarachnoid Space, Increased Head Circumference and Polyhydramnios
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DOI: 10.1002/pd.6841
Abstract: CHD4‐associated Sifrim‐Hitz‐Weiss syndrome (SIHIWES) is an autosomal dominant intellectual developmental disorder. The postnatally clinical manifestations primarily include heart defects, macrocephaly, and hypotonia. We report a well‐documented prenatal case of SIHIWES presenting with increased head circumference,… read more here.
Keywords: head circumference; circumference polyhydramnios; chd4; cerebral subarachnoid ... See more keywords