Clinical History.—A 4,590 gm (10 lb 2 oz) girl, the product of a 40-week gestation, was born to a 27-year-old primigravida. Pregnancy was complicated by mild preeclampsia. At birth, the baby was depressed, cyanotic, and required positive pressure ressucitation. The one minute Apgar score was 5.
Physical Examination.—Upon admission in the nursery, the most striking physical findings were a narrow thorax with minimal expansion and short extremities. Roentgenograms of the chest and long bones were obtained.
Denouement and Discussion
Asphyxiating Thoracic Dystrophy
Asphyxiating thoracic dystrophy is a rare familial chondrodystrophy characterized by an early onset of respiratory distress, and in its severe form by a fatal outcome.Clinically, the hallmarks of this disease are marked constriction of the thorax and short-limbed dwarfism with anomalies of the pelvis and extremities. Polydactyly, dental and renal anomalies are not uncommon.The roentgenographic findings are typical and provide the diagnosis. The skeletal anomalies are discernible