MORNING REPORT

Aaron McCoy, MD, PGY3

HPI
Otherwise healthy 4mo female presents for a crooked

smile. Per her parents, this has been present since birth. They feel that her R lower lip droops and her L lips dont open as wide as they should. This has been a static problem. The rest of her facial movements are felt to be normal. The asymmetry is most prominent when she is smiling, crying or sleeping. She has not had a trauma to her face including no forceps for delivery. She has not had any fever or illnesses. There have been no recent sick contacts in the family.

HPI Continued
PMH: Uncomplicated pregnancy and delivery, AGA @

39.1, typical nursery course. FH: No FH of neurodevelopmental problems, genetic problems or any other childhood illnesses. SH: Lives in Utah with mom, dad and 3 healthy siblings age 5,8, and 10. Stays at home with mom during the day. Medications: None Allergies: None

Physical Exam
Vitals: T 36.0 RR 30 HR 120 HT 61cm (41%), WT 6.3kg (59%), HC 43cm (98%) General: No acute distress, well developed and nourished, appropriately

interactive and playful during exam Extremities: Warm and well perfused. No clubbing, cyanosis or edema. Mild inversion of feet bilaterally at rest, able to be repositioned to neutral HEENT: AFSF, no cranial asymmetry, pupils equal, round and reactive to light, EOM intact, conjugate gaze, no conjunctival injection, no nasal discharge or obstruction, oropharynx without lesion CV: S1, S2, no murmurs or gallops, femoral pulses strong bilaterally Resp: CTAB, no increased work of breathing or distress Abd: Soft, non-tender, non-distended or organomegally Skin: No rash or lesion Neurological exam: R lower lip paresis when stimulated to smile while tickled or cry while upset during exam, otherwise cranial nerves 2-12 grossly intact, grossly normal tone, without apparent motor or sensory deficits.

Imaging/Labs
MRI Brain and Craniofacial: pending

Differential ?
If needed EMG and US can help differentiate between

ACF and true facial paralysis AND whether cause is traumatic nerve compression or hypoplasia

Asymmetric Crying Facies Syndrome

- Congenital absence or hypoplasia of the depressor anguli

oris or depressor labii inferioris OR compression of one of the branches in the facial nerve - The muscles controlling movement of one side of the mouth are affected, thus there is asymmetry of the face upon crying, parents often report lips of affected side appear thin - Common, as many as 1 in 160 - Differentiated from facial palsies, muscles controlling upper face are normal, nasolabial folds are normal, forehead wrinkles and both eyes close normally.

Asymmetric Crying Facies Syndrome

There is a left predominance (54-83%)

Less common in preterm and SGA babies (lower

pressures in uterus?) Mandibular branch of CN7 that innervates the DAOM and DLIM lies superficially in neonatal period, on the lower edge of the mandible, easily compressed by intrauterine posture or intrapartum compression Risks: primiparity, multiple gestation, LGA, difficult delivery, forceps, uterine tumors

What to worry about?

Associated with 3.5x increase risk of other major

anomalies, ie about 10% total risk Cardiovascular lesions- this is where the term cardiofacial syndrome comes from as 2-33% will have 22q11 deletion (can have ACF, 22q11 deletion and have normal CVS), ASD, VSD and PDA also common 22q11 associated with CVS lesions (TOF), thymic aplasia, and Ca+/Parathyroid problems Cervicofacial region- auricular dysplasia, mandibular hypoplasia, perauricular tags etc usually on ipsiliateral side Other: CNS defects, GU defects, GI defects, skeletal defects, other genetic anomalies

Prognosis/Further work up
With nerve compression, spontaneous resolution is

expected If other dysmorphology is found or murmur is heard, ECHO is indicated, and FISH should be considered If cause cannot be determined, EMG and US of muscles can be helpful to evaluate muscle groups but even if they are abnormal, if they are are only abnormality watchful, waiting is recommended for 1 mo Another acceptable route: if there is no clear pathology, watch and wait and base work up on lack of spontaneous improvement

References
Shapira, Borochowitz. Asymmetric Crying Facies.

Neuroreviews Vol 10 No 10 Oct 1, 2009. pp e502-e509.