Tuesday, June 7, 2016

Beyond the iceberg tip - cleft challenges

I remember reading about cleft lip and palate during my med school years
Ignorance is bliss. No big deal, Cleft lip is caused by the failure of fusion of maxillary and medial nasal processes. (formation of the primary palate).

A cleft palate is due to the fusion of two lateral palatine processes or failure of fusion of lateral palatal shelves with  the nasal septum, or median palatal shelf( secondary palate formation). A bit trickier,but ok enough to grasp.

The lessons ended there, or so I thought.

Many years later, as a primary cleft surgeon I realize how complicated clefts can be. Ignorance is not bliss,especially for the dedicated cleft surgeon who sees thousands of patients. There are over ten million cleft children in the world today, and over one thousand are born every day.
A wrong diagnosis can be costly.

Clinical case: A 3 year old male child presents with midface dysplasia-flat nose,flat cheek bones .His parents noticed that he had a small chin and large tongue, difficulty breathing when supine and better on sitting up.
On examination, he has a flat nose,flat cheek bones, U shaped cleft palate, large tongue and micrognathia(small retracted chin area) . The child also has hearing loss,tender joints, and is myopic.
What is your most likely diagnosis in this case?


The child presents with the classic triad of micrognathia,glossoptosis(large tongue that falls backwards due to small jaw), and U shaped cleft palate ,which is  diagnostic of the Pierre Robin sequence. This can cause severe post palatoplasty airway obstruction with hypoxia.
The presence of arthritis, myopia and facial abnormalities in this child is suggestive of a collagen disorder. The most common underlying syndrome with  Pierre Robin sequence is the Stickler Syndrome,an autosomal dominant disorder affecting connective tissues,especially collagen.

Pics of a child with PR sequence(net)


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