An Interesting Diagnosis for a Case of Repeated Aspiration Pneumonia

Abstract

A 2-year 6-month-old little girl, presented with recurrent fever with episodes of cough and non-bilious vomiting for last 6 months. She had poor eating habit and had failure to thrive. Examination revealed dysmorphic facies like prominent forehead, deep sunken eyes, malar prominence, hypertelorism, small nose, long filtrum, small contracted mouth, pursed lips (Figure 1). Skeletal features showed contracture of multiple joints especially small joints of hand and foot with prominent muscle, camptodactyly with ulnar deviation of hand, uncorrected club foot and short trunk and limbs (Figure 2).