This is a three-month-old male patient and consanguineous parents from Medellin, with a history of a deceased middle brother with the same entity in the perinatal period.
Prenatal ultrasound was reported as normal.
She was born by cesarean section weighing 2,030 g and a size of 38 cm. Short neck and thorax and slightly distended abdomen were observed.
She presented with progressive respiratory distress in the first 15 days of life.
Currently, she needs permanent oxygen.
Echocardiography was normal.
A chest X-ray showed cervical thoracic crowding and posterior costal fusion, as well as lumbar hemivertebrae.
