BABY WITH LARGE HEAD, SHORT NECK WITH ABNORMAL RIBCAGE……..A CHALLENGE TO NEONATOLOGIST

*Dr. Joydeep Das, Dr. Jyoti Kiran, Dr. Susanta Bhanja and Dr. Balram Gupta

ABSTRACT

Hypochondroplasia or achondroplasia is a condition where all the cartilages are small and deformed leading to poor growth of future long and short bones sparing flat bones to some extent. Prominent forehead, midfacial hypoplasia with very short neck and disproportionate head circumference alongwith short tubular bones are main features of these short babies. Unexplained respiratory distress requiring ventilator since few hours of birth with normal lung parenchyma, echocardiography, and cranial USG compels neonatologist to think any ribcage anomaly. Narrow short ribs mimicking thoracic dystrophy contributes to increase work done and difficulty in breathing and feeding. In this case we share our experience and challenges faced by the neonatologist in NICU.

Keywords: Hypochondroplasia, large head, respiratory distress, thoracic dystrophy to NICU.