Abstract
The Journal of Pediatrics recently published a case report outlining a rare pediatric neurologic disorder known as Asymmetric Crying Facies Syndrome. The report, authored by Kai-Yu Ho and Jing Nong Liang from the Department of Physical Therapy at the University of Nevada, Las Vegas, delved into the diagnosis and implications of this condition in a newborn. This comprehensive article aims to elucidate the syndrome, discuss its causes, diagnosis, management, and implications for pediatric care. The discussion will be enriched with relevant references for further in-depth study on the topic.
Introduction
First described in the medical literature by Cayler in 1969, Asymmetric Crying Facies Syndrome, also known as Cayler Cardiofacial Syndrome, is a congenital abnormality that is often underdiagnosed. The condition is characterized by an asymmetrical facial expression when the infant cries due to the absence or hypoplasia of the depressor anguli oris muscle on one side. With an estimated incidence of 1 in 160 live births, it’s considered to be a rare pediatric occurrence.
Case Presentation
The recent case documented in The Journal of Pediatrics pointed out a female newborn demonstrating typical phenotypic characteristics of Asymmetric Crying Facies Syndrome. The significance of recognizing facial paralysis, particularly during crying, cannot be overstated as it can be a telltale sign of this syndrome. The diagnosis hinges on keen observation and can have broader implications for infant health due to potential associated anomalies.
Etiology and Diagnosis
The etiology of the syndrome is primarily developmental, sometimes linked to genetic factors. It’s proposed that the syndrome may be caused during embryonic development when the muscle or its nerve supply fails to develop properly. In the clinical setting, diagnosis is predominantly visual, with no extensive investigations typically required. However, the pediatrician may recommend genetic counseling and other tests to rule out associated conditions.
Management and Treatment
Management of the syndrome generally involves reassurance and counseling for the parents, as the condition is often cosmetic and does not have significant functional consequences. Nevertheless, understanding the implications and potential comorbidities is crucial. In cases where Asymmetric Crying Facies Syndrome presents along with cardiac anomalies, intervention may be necessary to address the cardiac issues.
Social and Developmental Implications
Though primarily cosmetic, early diagnosis and intervention are recommended for better social adaptation and psychological well-being. Parents should be educated about the benign nature of the condition, but they should also be alert to the possibility of other underlying anomalies. In rare cases, surgical correction could be considered for aesthetic or functional reasons, but this is not common practice.
Conclusion
Asymmetric Crying Facies Syndrome remains an uncommon pediatric presentation, yet knowledge about this condition is imperative for early recognition and management. Integrating genetic counseling and thorough neonatal examination can enhance outcomes and reduce parental anxiety regarding the health of their newborn.
DOI: 10.1016/j.jpeds.2019.04.011
References
1. Cayler GG. Asymmetric crying facies and congenital heart disease. Pediatrics. 1969;43(4):570-573.
2. Ho KY, Liang JN. Asymmetric Crying Facies Syndrome. J Pediatr. 2019;212:235. DOI: 10.1016/j.jpeds.2019.04.011
3. Magit AE. Congenital Anomalies of the Ear, Nose, and Throat. Otolaryngol Clin North Am. 1998;31(3):409-430.
4. Basart H, Kross KW. Asymmetric crying facies: a possible symptom of cardiofacial syndrome. Ned Tijdschr Geneeskd. 2008;152(28):1575-1578.
5. Strider JW, Mastropieri CJ, Durham CO. The occurrence of asymmetric crying facies in pediatric practice. Pediatrics. 1987;79(6):882-887.
Keywords
1. Asymmetric Crying Facies Syndrome
2. Cayler Cardiofacial Syndrome
3. Pediatric Neurologic Disorder
4. Neonatal Facial Paralysis
5. Congenital Facial Asymmetry
By leveraging this information, pediatric healthcare providers can improve their screening and management approaches to Asymmetric Crying Facies Syndrome. It also serves as an alert to parents and career counselors to recognize and understand the implications of the disorder. Despite its rarity, comprehensive knowledge about Asymmetric Crying Facies Syndrome is an essential component of well-rounded pediatric care and can vastly reduce concerns associated with the condition.