Asymmetric crying facies
Asymmetric crying facies | |
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Other names | Cayler cardiofacial syndrome |
Specialty | Medical genetics |
Asymmetric crying facies (ACF), also called partial unilateral facial paresis and hypoplasia of depressor angula oris muscle,[1] is a minor congenital anomaly caused by agenesis or hypoplasia of the depressor anguli oris muscle, one of the muscles that control the movements of the lower lip. This unilateral facial weakness is first noticed when the infant cries or smiles, affecting only one corner of the mouth and occurs on the left side in nearly 80% of cases. It is only rarely associated with other birth defects.[citation needed]
When the hypoplasia of the depressor anguli oris muscle is associated with congenital cardiac defects, the term 'Cayler cardiofacial syndrome' is used.
Cayler syndrome is part of 22q11.2 deletion syndrome.[2]
It was characterized by Cayler in 1969.[3]
References
- ^ Online Mendelian Inheritance in Man (OMIM): 125520
- ^ Shashi V, Berry MN, Hines MH (September 2003). "Vasomotor instability in neonates with chromosome 22q11 deletion syndrome". American Journal of Medical Genetics. 121A (3): 231–4. doi:10.1002/ajmg.a.20219. PMID 12923863. S2CID 10511844.
- ^ Cayler GG (1969). "Cardiofacial syndrome. Congenital heart disease and facial weakness, a hitherto unrecognized association". Arch Dis Child. 44 (233): 69–75. doi:10.1136/adc.44.233.69. PMC 2020193. PMID 5765991.
- General
- Sapin SO, Miller AA, Bass HN (2005). "Neonatal asymmetric crying facies: a new look at an old problem". Clin Pediatr (Phila). 44 (2): 109–19. doi:10.1177/000992280504400202. PMID 15735828. S2CID 25670821.
- Lahat E, Heyman E, Barkay A, Goldberg M (2000). "Asymmetric crying facies and associated congenital anomalies: prospective study and review of the literature". J Child Neurol. 15 (12): 808–10. doi:10.1177/088307380001501208. PMID 11198496. S2CID 26405387.
- Rioja-Mazza D, Lieber E, Kamath V, Kalpatthi R (2005). "Asymmetric crying facies: A possible marker for congenital malformations". J Matern Fetal Neonatal Med. 18 (4): 275–7. doi:10.1080/14767050500246482. PMID 16318980. S2CID 1092072.
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