Stippled Calcifications over Bilateral Epiphyses of Humeri

An infant girl born preterm presented with upper limb shortening and respiratory distress after birth. She was born via cesarean delivery due to oligohydramnios and malposition with a gestational age of 35 weeks and body weight at birth of 2360 g. A radiograph of the chest showed stippled calcifications in the epiphyses of bilateral humeri (Figure, arrows). Due to the abnormality on chest radiography, whole-exome sequencing was performed for a suspected genetic disorder. Later, it reported compound heterozygous mutations in the peroxisome biogenesis factor 7 gene (PEX7).

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