ABSTRACT
Objective To study the clinical and genetic characteristics of neonatal asymmetric crying facies (ACF).Method From January 2007 to December 2016,clinical data were retrospectivelyreviewed in patients with ACF admitted to Neonatal Unit of Xinhua Hospital.The data included maternalpregnancy and delivery history,clinical manifestation,results of chromosome florescent in situ hybridization(FISH) and gene chip test.Result Among 32 patients with classic ACF,8 were female and 24 weremale.5 cases were one of the twins or muhiplets.16 patients were born from mothers with history ofspontaneous abortion or induced abortion.16 patients presented with ACF on the left side and 16 patients onthe right side.7 patients had single ACF malformation,7 with malformation of another organ,and18 patients with malformation of more than two other organs.Combined malformation included earmalformation in 11 cases,facial malformation in 6 cases,cardiovascular malformation in 19 cases,urinarytract malformation in 3 cases,digestive system malformation in 3 cases,abnormal nervous system image in7 cases,and immune/endocrine system abnormality in 3 cases.10 patients received genetic analysis withFISH and/or gene chip tests and 4 patients had positive results.Among the patients who completed geneticanalysis,8 patients received FISH test and 2 patients had 22q11.2 distal deletion.1 patient hadheterozygous deletion in 22q21 region using gene chip test after he got a negative result with FISH.Amongthe 32 cases,6 patients died until now,among them,5 patients had multi-organ malformation.ConclusionACF is a tiny facial deformity,however it is often associated with other congenital malformations.Earlygenetic detection and systematic multiple malformations screening are particularly important for diagnosis andprediction of prognosis.
ABSTRACT
PURPOSE: Asymmetric crying facies is caused by agenesis or hypoplasia of the depressor anguli oris muscle and is often associated various anomalies. Several static and dynamic surgical interventions have been reported, but their effects are unreliable. We report on the successful use of botulinum toxin A in an asymmetric crying facies patient. METHODS: A 4-year-old girl presented with a facial asymmetry on crying or smiling. Physical examination revealed that her face had no asymmetry at rest. However, the patient showed characteristic asymmetry when smiling, crying, and with other normal facial movements. Asymmetric crying facies was clinically suspected and the weakness of left depressor anguli oris was present on electrophysiology study. Fifteen units of botulinum toxin type A were injected to the right depressor anguli oris muscle. RESULTS: The patient showed the prominent improvement in the facial symmetry without significant complication and the effect persisted until 3 months post injection. CONCLUSION: Asymmetric crying facies was treated successfully with botulinum toxin A and this method was easy and noninvasive.