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Saturday, December 11, 2010

case-1

 This 6 year old has had an asymmetric smile/cry since birth. Although covered in the picture, she had symmetric eye closure. 
1) What is the condition?
2) If on auscultation you heard a grade 4/6 holosystolic murmur in the left parasternal area radiating across the sternum what syndrome would you diagnose her with?

ANS:-This girl has congenital absence of depressor anguli oris muscle (DAOM). The DAOM normally draws the lower corner of the mouth downward and everts the lower lip. It is usually diagnosed in the newborn period due to asymmetric cry. These patients have symmetrical forehead wrinkling, eye closure, and nasolabial fold depth. The diagnosis may be confirmed by electrophysiologic studies. Congenital facial nerve palsy is rare and is usually LMN type (asymmetric eye closure and nasolabial folds) ________________________________________________________________ 
It can occur in isolation or have associated other congenital anomalies. The most common associated system is cardiac with VSD being the commonest heart lesion. This association has been termed Cayler Cardiofacial Syndrome