High‐flow nasal cannula therapy in a case of spondylocostal dysostosis type 2
Abstract
Spondylocostal dysostosis (SCD) is a rare genetic disorder causing multiple malformations of the ribs and vertebrae. Its clinical manifestations include a short trunk, a bulging abdomen, and respiratory disorders, depending on thoracic hypoplasia severity. Spondylocostal dysostosis type 2 (MESP2associated SCD; OMIM 608681) is especially severe and causes vertebrae segmentation in the cervical and thoracic regions, and chest deformity due to fusion of the ribs. We report the case of an infant girl with SCD2 complicated with respiratory dysfunction at birth. The infant was born at 40 weeks of gestation to non-consanguineous, healthy parents lacking family histories of inherited diseases. No abnormalities other than hypoplastic spinous processes of vertebrae were noticed during the fetal period. She needed high airway pressure exceeding 35 cm H2O with 100% oxygen at birth. Her Apgar scores were 2 and 9 at 1 and 5 min after birth, respectively. Her birthweight, height, and arm span were 2,754 g ( 1.0 SD), 44.2 cm ( 2.9 SD), and 46 cm, respectively. She had a short neck and trunk (in proportion to her height), lumbar deformities, and abdominal protrusion. Radiographs showed separated and disorganized vertebral bodies, the socalled pebble beach sign, and a compressed chest cage comprising proximally fused “crab-like ribs” (Fig. 1). To determine the cause of her clinical features, we ordered genetic tests after obtaining her parents’ written consent. The patient’s and her parents’…
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