Rare association of Klippel-Feil syndrome with situs inversus totalis and review of the genetic background

2021 ◽  
Vol 14 (5) ◽  
pp. e241906
Author(s):  
Husain Abdulameer Abdali ◽  
Joseph Rivendra Duddu ◽  
Mohamed Jawad Mubarak ◽  
Almughirah Salahaldin Mohamed
Keyword(s):  
Congenital Anomaly ◽  
Causative Agent ◽  
Situs Inversus ◽  
Congenital Anomalies ◽  
Genetic Background ◽  
Cervical Vertebrae ◽  
Situs Inversus Totalis ◽  
Rare Congenital Anomaly ◽  
Rare Association ◽  
High Possibility

Klippel-Feil syndrome (KFS) is a rare congenital anomaly in forming the cervical vertebrae resulting in the fusion of two or more of the vertebrae. KFS is associated with many congenital anomalies, some of which are common and well known. Here, we report a child with an extremely rare association of KFS with situs inversus totalis (SIT). Both KFS and SIT are genetically heterogeneous and their co-occurrence suggests a high possibility of sharing the same underlying causative agent. Here, we review the genetic background that is known for these two conditions in the literature.

scholarly journals Liver Transplantation Using a Graft from a Donor with Situs Inversus Totalis: A Case Report and Review of the Literature

2013 ◽  
Vol 2013 ◽  
pp. 1-3 ◽  
Author(s):  
Xu-Yong Sun ◽  
Ke Qin ◽  
Jian-Hui Dong ◽  
Hai-Bin Li ◽  
Liu-Gen Lan ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Liver Transplantation ◽  
Situs Inversus ◽  
Vascular Anatomy ◽  
Situs Inversus Totalis ◽  
Review Of The Literature ◽  
Rare Congenital Anomaly ◽  
Successful Case ◽  
Graft Positioning ◽  
Opening Up

It is critical to effectively use every available organ to meet the increasing demands for liver transplantation. Situs inversus is a rare congenital anomaly caused by obstruction of viscus rotation during embryonic development. Situs inversus was once regarded as a contraindication to liver transplantation because of the technical difficulties associated with the unique vascular anatomy and concern about achieving accurate graft positioning. Here, we present a successful case of liver transplantation using a graft from a donor with situs inversus totalis. The related experience will contribute to opening up new realms for the use of such rare organ resources.

scholarly journals Cholecystitis in Situs Inversus with Dextrocardia

2018 ◽  
Vol 3 (2) ◽  
pp. 87
Author(s):  
Mohammad Ali Raza Qizalbash ◽  
Rida Zahra ◽  
Adnan Adil Mithwani ◽  
Anwar Adil Mithwani ◽  
Muaaz Adil Mithwani ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Emergency Department ◽  
Case Report ◽  
Acute Cholecystitis ◽  
Situs Inversus ◽  
Open Cholecystectomy ◽  
Situs Inversus Totalis ◽  
The Body ◽  
Rare Congenital Anomaly ◽  
Left Hypochondrium

Background: Surgical problem known as Acute Cholecystitis is very common nowadays; however it may cause trouble in diagnosing when person has situs inversus, (i.e.) viscera situated on the opposite side of the body. Our case report discusses the history and physical exam findings, images of radiograph, diagnosis, and how we dealt with cholecystitis in situs inversus with dextrocardia.Case Presentation: An eighty-six yrs. old male having pain in the upper left hypochondrium region, presented in emergency department. He was later diagnosed to have acute cholecystitis (inflammation of the gallbladder) with cholelithiasis (presence of gallstones in gallbladder) in situs inversus totalis. Patient underwent elective open cholecystectomy within 24 h. Patient recovered well and was discharged on fourth postoperative day.Conclusion: Acute cholecystitis in Situs Inversus with Dextrocardia is very rare congenital anomaly and requires great expertise in the field of surgery to operate on these patients because of the reverse anatomy of the organs.

scholarly journals Agenesis of Isthmus of the Thyroid Gland in a Patient with Graves-Basedow Disease and a Solitary Nodule

2013 ◽  
Vol 2013 ◽  
pp. 1-2
Author(s):  
Omer Faruk Ozkan ◽  
Mehmet Asık ◽  
Huseyin Toman ◽  
Faruk Ozkul ◽  
Oztekin Cıkman ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Thyroid Gland ◽  
Surgical Procedures ◽  
Congenital Anomalies ◽  
Clinical Symptoms ◽  
Endocrine Gland ◽  
Solitary Nodule ◽  
Rare Congenital Anomaly ◽  
Wide Range

The thyroid is a vascular endocrine gland with two lateral lobes connected by a narrow, median isthmus. Although a wide range of congenital anomalies of the thyroid gland has been reported in the literature, agenesis of the thyroid isthmus is a very rare congenital anomaly. Thyroid isthmus agenesis does not manifest clinical symptoms, and it can be confused with other thyroid pathologies. We describe a patient with no isthmus of the thyroid, associated with Graves-Basedow disease. Thyroid isthmus agenesis should be kept in mind in order for surgical procedures involving thyroid pathologies to be carried out safely.

scholarly journals Poland Syndrome- A Rare Congenital Condition

2018 ◽  
Vol 36 (4) ◽  
pp. 166-169
Author(s):  
Homayra Tahseen Hossain ◽  
Md Abul Kashem Khandaker ◽  
Quazi Tarikul Islam ◽  
HAM Nazmul Ahasan ◽  
Munshi MB Md Shoaib Adnan ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Mitral Valve ◽  
Chest Wall ◽  
Male Patient ◽  
Mitral Valve Prolapse ◽  
Poland Syndrome ◽  
Rare Congenital Anomaly ◽  
Rare Association ◽  
Vascular Disruption ◽  
Congenital Condition

Named after Sir Alfred Poland, Poland syndrome is a rare congenital anomaly classically characterized by the absence of unilateral chest wall muscles and sometimes ipsilateral symbrachydactyly (abnormally short and webbed fingers). The aetiology is probably a vascular disruption sequence of the subclavian arteries. In most cases, Poland Syndrome is sporadic. We report a 26 year old male patient with typical features of Poland Syndrome associated with bronchiectasis and mitral valve prolapse- a very rare association. To the best of our knowledge, this is the first documented case of a Poland Syndrome with rare association reported from Bangladesh.J Bangladesh Coll Phys Surg 2018; 36(4): 166-169

scholarly journals Duplikasi Buli-Buli

2016 ◽  
Vol 1 (4) ◽  
pp. 230-234
Author(s):  
Bambang Soeprijanto
Keyword(s):  
Magnetic Resonance Imaging ◽  
Congenital Anomaly ◽  
Magnetic Resonance ◽  
Congenital Anomalies ◽  
Sagittal Plane ◽  
Resonance Imaging ◽  
Abdominal Sonography ◽  
Rare Congenital Anomaly

Duplication of the bladder is a very rare congenital anomaly that is usually associated with other congenital anomalies. We present 2 cases of babies with duplication of the bladder combined with other congenital anomalies. Abdominal sonography, genitography, lopography and magnetic resonance imaging revealed incomplete duplication of the bladder at coronal and sagittal plane and combined with other congenital anomalies. Cystourethroscopy confrm the diagnosis.

scholarly journals Biliary Atresia Associated with Polysplenia Syndrome, Dextrocardia, Situs Inversus Totalis and Malrotation of Intestines

2014 ◽  
Vol 3 (1) ◽  
pp. 9
Author(s):  
Praveen Mathur ◽  
Rahul Gupta ◽  
Varsha Soni ◽  
Reyaz Ahmed ◽  
Ram Babu Goyal
Keyword(s):  
Biliary Atresia ◽  
Rare Disease ◽  
Situs Inversus ◽  
Congenital Anomalies ◽  
Female Child ◽  
Situs Inversus Totalis ◽  
Biliary Cirrhosis ◽  
Polysplenia Syndrome ◽  
Kasai Operation

Biliary atresia (BA) is a rare disease and the end result of a destructive, inflammatory cholangiopathy, leading to fibrosis and biliary cirrhosis. It is classified into syndromic variety with various congenital anomalies and non-syndromic (isolated anomaly). We present here a 1-month-old female child with the syndromic variety of BA associated with polysplenia syndrome, dextrocardia, situs inversus totalis and malrotation of intestines. She developed jaundice in the first week of life. Kasai operation was performed but she developed cholangitis and septicemia 2.5 months after surgery and succumbed later.

scholarly journals Ureter Quadruplication with Huge Ureteral Cyst

2015 ◽  
Vol 35 (1) ◽  
pp. 79-81 ◽  
Author(s):  
R Joshi ◽  
DR Singh
Keyword(s):  
Congenital Anomaly ◽  
Surgical Treatment ◽  
Magnetic Resonance ◽  
Ct Scan ◽  
Congenital Anomalies ◽  
Provisional Diagnosis ◽  
Diagnostic Dilemma ◽  
Surgical Exploration ◽  
Rare Congenital Anomaly ◽  
Routine Investigations

Ureteral quadruplication is an extremely rare congenital anomaly. It was first reported in 1975. The patients may present with different features and complications in respect to this congenital anomaly. They may also present with other congenital anomalies. Diagnosis sometimes is difficult and may need to be investigated with Magnetic Resonance Urogram, CT scan apart from routine investigations like ultrasonography and intravenous urogram. Surgical treatment should be based on the operative and investigational finding. We present the twelfth reported case but the first from Nepal. It was associated with a large ureteral cyst with diagnostic dilemma. Surgical exploration was done with a provisional diagnosis of large retroperitoneal cyst.J Nepal Paediatr Soc 2015;35(1):79-81

Malignant Duodenal GIST in a Patient with Situs Inversus Totalis—a Rare Association and Brief Review of Literature

2017 ◽  
Vol 50 (1) ◽  
pp. 109-112
Author(s):  
Manoj Thillai ◽  
Naveen Alexander ◽  
Surendran Paramasivam ◽  
Arun Ezhil ◽  
Niranjan Raj ◽  
...  
Keyword(s):  
Situs Inversus ◽  
Situs Inversus Totalis ◽  
Review Of Literature ◽  
Rare Association ◽  
Duodenal Gist

Spinal dysraphism, club feet, and dextrocardia with situs inversus totalis in a neonate: a rare association and review

2020 ◽  
Vol 9 (1) ◽  
Author(s):  
Surasak Puvabanditsin ◽  
Akreeti Maskey ◽  
Rannan Kased ◽  
Sadia Haleem ◽  
Rajeev Mehta
Keyword(s):  
Situs Inversus ◽  
Molecular Basis ◽  
Spinal Dysraphism ◽  
Situs Inversus Totalis ◽  
Chromosome 6 ◽  
Case Presentation ◽  
Snp Microarray ◽  
Rare Association ◽  
Common Molecular Basis ◽  
Field Defects

AbstractObjectivesThe spinal dysraphism and situs inversus are a rare association. Since 1909, reports on the coincidence of malformations of the spine and gastrointestinal tract have been published. So far there is no plausible explanation for the association.Case presentationWe report a term female infant with spinal dysraphism with club feet associated with dextrocardia and situs inversus totalis. Whole genome SNP microarray analysis was normal. However, there are extended contiguous regions of allele homozygosity [>8 Mb[megabase]) observed in chromosome 6 and 14.ConclusionsWe report a rare association of spinal dysraphism and situs inversus totalis in a neonate. We review the literature. There have recently been theorized by some to in fact represent nothing more than the presence of two or more polytopic field defects, with all the anomalies present sharing a common molecular basis.

Sign in / Sign up

Export Citation Format

Share Document