Pediatric Board Question / 22 month-old girl with developmental delay and dysmorphic features

The following clinical vignette is a girl with a developmental delay and dysmorphic features. It is a very commonly tested diagnosis on the pediatric boards. Following the clinical vignette and questions we show you how to unpack and breakdown the question for clues to the diagnosis.  After you complete the analysis you can test your knowledge to see if you answered it correctly. Even if you did not answer it correctly here, once you are done, the concepts will be locked into memory for easy unpacking on the exam itself with a guarantee you will answer it correctly when it counts. 

The question involves a 22 month old girl a large head and repeated respiratory infections, corneal clouding and harsh facial features.  Good luck and let us know how you do ! 

When analyzing the question, if you are presented with a female patient, you can rule out any x-linked disorders. Growth is on target despite the developmental delay. They will not come out and use the words coarse facial features but you should note that on scratch paper based on the description as well as recurrent respiratory infections. Enlarged tongue , macrocephaly , hepatomegaly and cardiac murmur are additional components of the vignette. A picture should emerge and now the correct answers should make perfect sense. 

Self Assessment Question and Answers 2019 Volume 3 Clinical Vignettes