A Case of Tetrasomy 18p with Tracheomalacia

We present here a case of tetrasomy 18p with tracheomalacia. A three-month-old male child presenting with growth retardation and respiratory distress was admitted to our hospital. He also showed hypertonia, feeding difficulty, low set ears, high arched palate, micrognathia, unilateral single palmar crease, ventricular septal defect and hydronephrosis. A chromosomal analysis using blood lymphocytes stimulated by PHA showed 47,XY,＋ i） . Three-dimensional CT and radioscopy revealed tracheomalacia in the upper airway. Children with tetrasomy 18p often exhibit growth retardation, feeding difficulty and respiratory distress. Tracheomalacia may cause these symptoms.