Version 1
: Received: 4 September 2023 / Approved: 5 September 2023 / Online: 6 September 2023 (04:21:17 CEST)
How to cite:
Gupta, S.; Raghumahanti, R.; Harjpal, P. Genu Recurvatum and Rocker Bottom Foot Co-occurrence in a Unique Clinical Image of Edwards Syndrome.. Preprints2023, 2023090312. https://doi.org/10.20944/preprints202309.0312.v1
Gupta, S.; Raghumahanti, R.; Harjpal, P. Genu Recurvatum and Rocker Bottom Foot Co-occurrence in a Unique Clinical Image of Edwards Syndrome.. Preprints 2023, 2023090312. https://doi.org/10.20944/preprints202309.0312.v1
Gupta, S.; Raghumahanti, R.; Harjpal, P. Genu Recurvatum and Rocker Bottom Foot Co-occurrence in a Unique Clinical Image of Edwards Syndrome.. Preprints2023, 2023090312. https://doi.org/10.20944/preprints202309.0312.v1
APA Style
Gupta, S., Raghumahanti, R., & Harjpal, P. (2023). Genu Recurvatum and Rocker Bottom Foot Co-occurrence in a Unique Clinical Image of Edwards Syndrome.. Preprints. https://doi.org/10.20944/preprints202309.0312.v1
Chicago/Turabian Style
Gupta, S., Raghuveer Raghumahanti and Pallavi Harjpal. 2023 "Genu Recurvatum and Rocker Bottom Foot Co-occurrence in a Unique Clinical Image of Edwards Syndrome." Preprints. https://doi.org/10.20944/preprints202309.0312.v1
Abstract
Edward syndrome, clinically known as trisomy 18 syndrome, is an autosomal chromosomal disorder characterized by an extra copy of chromosome 18. It belongs to the category of autosomal trisomy syndromes and is the second most common, with trisomy 21 being the only more frequent occurrence. In the context of this research, we present a case study focusing on a 3-month-old female infant admitted to the emergency department due to a complex array of symptoms. The primary clinical manifestations included a persistent cough, cold, and fever lasting for eight consecutive days. Comprehensive clinical evaluations, encompassing radiological and hematological investigations, confirmed the diagnosis of bronchiolitis along with viral bronchopneumonia. Chest X-rays revealed bilateral patchy opacities and diffuse haziness, primarily concentrated in the right hemithorax. Beyond respiratory issues, the infant displayed a range of distinctive physical attributes, including low-set ears, micrognathia, cranial anomalies, flattened nasal bridge, widely spaced nipples, overlapping fingers, abdominal distention, rocker-bottom feet, and recurring limb deformities known as recurvatum. Attempts to correct the limb deformity with a hip spica cast over an extended month-long period proved unsuccessful. Chronic villus sampling (CVS) ultimately confirmed the presence of Edward Syndrome (Trisomy 18), linked to the extra chromosome 18, leading to diverse physiological and developmental abnormalities. This case underscores the critical importance of timely and precise diagnosis, highlighting the challenges involved in addressing complex medical conditions marked by multifaceted clinical phenotypes.
Keywords
Edward Syndrome; x-ray; genu recurvatum; rocker bottom foot; camptodactyly
Subject
Public Health and Healthcare, Physical Therapy, Sports Therapy and Rehabilitation
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
