Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous<i>FGFR2</i>Mutations Identified by Exome Sequencing

Abstract excerpt

Ectrodactyly/split hand-foot malformation is genetically heterogeneous with more than 100 syndromic associations. Acinar dysplasia is a rare congenital lung lesion of unknown etiology, which is frequently lethal postnatally. To date, there have been no reports of combinations of these two phenotypes. Here, we present an infant from a consanguineous union with both ectrodactyly and autopsy confirmed acinar...

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