PHECOMELIA
Abstract
Purpose: Phocomelia is a congenital disorder characterized by the abnormal development of the limbs, specifically the upper limbs, during fetal development. In this condition, the upper limbs are either shortened or completely absent, and the hands may be attached to the shoulders or chest. Similarly, the lower limbs may be shortened or malformed, with the feet attached directly to the thigh bones. This study presents an epidemiologic analysis of phocomelia cases in Kenya.
Problem: Phocomelia can be caused by a number of factors, including genetic mutations, chromosomal abnormalities, and exposure to certain teratogenic agents such as thalidomide. The disorder is considered to be rare, with only a few cases reported worldwide.
Research methodology; The study used a case report from Kericho county, Kenya.
Findings and discussions: The disease vary in degree of severity. It manifests with near normal hand or foot, hands or feet directly attached to trunk, absent or underdeveloped bones of hands and legs e.g humerus/femur/radius/tibia/ulnar fibula. The prevalence of these findings was lower than in previous studies, which is likely due to the study's careful selection of only true phocomelia and not amelia or other limb truncation. Due to its infrequency, lack of public awareness, and lack of adequate technology to assist in managing this condition, this condition receives less attention than other disorders such as cerebral palsy or Down syndrome.
Conclusion: Phocomelia is a rare disease for which no cause has been identified or documented. The cause is thought to be the use of thalidomide, a drug used to treat anxiety and Leprosy.
Recommendations: The most important management of a child born with Phocomelia is to assess for other associated abnormalities, especially of the heart and intestines, and address them promptly and appropriately. Pediatric cardiologists and gastroenterologists should examine the child and recommend a treatment plan for any abnormalities encountered.
Keywords: Phocomelia, Case report, Etiology, Epidemiology, Pathophysiology
References
Aboud, M. J., Kadhim, S. M., Abudi, N. M., Joudi, H. M., & Joudi, Z. M. (2022). Congenital limbs deficiency versus phocomelia the hard work up with the subtleties and malformations accompanying the syndromes images: Case series. International Journal of Medical Reviews and Case Reports, 6(13), 65-65.
Bermejo‐Sánchez, E., Cuevas, L., Amar, E., Bianca, S., Bianchi, F., Botto, L. D., ... & Martínez‐Frías, M. L. (2011, November). Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature. In American Journal of Medical Genetics Part C: Seminars in Medical Genetics (Vol. 157, No. 4, pp. 305-320). Hoboken: Wiley Subscription Services, Inc., A Wiley Company.
Patel, A. H., Kreuzer, S. W., & Sherman, W. F. (2021). Bilateral Total Hip Arthroplasty in the Setting of Developmental Dysplasia of the Hip and Extreme Hip Flexion Requirements due to Phocomelia. Arthroplasty today, 8, 262-267.
Sethi S, Satia M, Ram S, kashyap P. (2021). Medical termination of pregnancy with phocomelia. Southeast Asian J Health Prof 2021;4(1):15-18.
