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PP-194. Campomelic dysplasia: Presentation of a newborn

PP-194. Campomelic dysplasia: Presentation of a newborn <h5>Aim</h5> Campomelic dysplasia is a rare congenital osteochondrodysplasia characterized by anterior bowing of the long bones of the lower limbs. Characteristic features are skeletal hypoplasia and anomalies affecting the face, head, scapulae, spine, pelvis, and upper and lower limbs. Other extraskeletal anomalies include the central nervous system, cardiovascular system and genitourinary system. We herein report a newborn diagnosed to have campomelic dysplasia.</P><h5>Case presentation</h5> A female neonate suffering from respiratory distress was transferred to our neonatal intensive care unit 4 h after birth. Endotracheal intubation with mechanical ventilation was performed due to respiratory failure. She was the first child born by cesarean section at 39 gestational weeks, with characteristic signs of campomelic dysplasia with short birth length of 44 cm, macrocephaly (head circumference 39 cm), short trunk and legs. Narrow rib cage and bowed lower extremities were determined. Anterior fontanella was enlarged, high forehead, small and flat face, hypertelorism, low nasal bridge, micrognathia, low set ears, and cleft palate were found. Characteristic skin dimpling on anterior side of tibia was present on both legs. Bone X-ray studies presented anterior bowing of shortened femurs and tibias. Chest radiograph showed bell-shaped, narrow thoracic cage, and scoliosis. Echocardiography showed patent ductus arteriosus, and patent foramen ovale. Transfontanel ultrasonography revealed hydrocephalus. On the basis of characteristic clinical and radiologic features, campomelic dysplasia was diagnosed. The patient died of respiratory failure at 39-day-old.</P><h5>Conclusion</h5> Campomelic dysplasia is often lethal in the neonatal period. The cause of death is primarily respiratory owing to airway and pulmonary defects, lack of laryngotracheobronchial cartilages, and hypotonia resulting in apneic spells, atelectasis, aspiration, and pneumonia. Campomelic dysplasia is often known as autosomal recessive; but autosomal dominant inheritance is published in the literature. However, genetic counseling is important to diagnose for another pregnancies.</P> http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Early Human Development Elsevier
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