Rhizomelic chondrodysplasia in an infant: a case report
The present case has been published in the Journal of Pediatrics. 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). Rhizomelic chondrodysplasia punctata type 1 (RCDP1) was confirmed by the genetic study and clinical features.

Learning Points:-
- Other possible differential diagnosis for chondrodysplasia punctata include fetal warfarin syndrome, alcohol embryopathies, and Zellweger syndrome.

- The diagnosis of RCDP1 is based on clinical symptoms and radiologic criteria and is confirmed by biochemical or molecular studies.

- RCDP1 has a poor prognosis, and treatment is symptomatic. Most patients may not survive beyond the first decade of life.

- Physiotherapy and nutritional and supportive care should be provided. This patient was discharged at 1 month old. During follow-up, the baby had persistent growth restriction.

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