scholarly journals Thromboembolism in COVID-19 Patient with Unilateral Congenital Absent ICA with Intracranial Aneurysm: First Case Report

2021 ◽  
Author(s):  
Diwakar Shankar ◽  
Deepak Kumar Singh ◽  
Vipin Chand ◽  
Kuldeep Yadav
Keyword(s):  
Congenital Anomaly ◽  
Case Report ◽  
General Population ◽  
Intracranial Aneurysm ◽  
World Wide ◽  
Internal Carotid ◽  
Interesting Case ◽  
Thromboembolic Events ◽  
Rare Congenital Anomaly ◽  
First Case

Abstract We here discuss an interesting case of COVID-19 patient suffering from ruptured right supra-clinoid intracranial aneurysm with congenital absence of right ICA. COVID-19 has been responsible for over 175 million reported cases and over 3.8 million deaths world-wide. Severe cases of COVID-19 is characterized with cytokine outburst and hyperinflammation, platelet activation, endothelial dysfunction and sepsis related coagulopathy. This predisposes for thromboembolic events and aneurysm formation and rupture. Agenesis, aplasia and hypoplasia of internal carotid artery (ICA) is a rare congenital anomaly. ICA agenesis is associated with increased incidence of intracranial aneurysm as compared with general population.

scholarly journals Sac-Type Congenital Diaphragmatic Hernia: A Case Report of Two Siblings

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Chisato Kodera ◽  
Takashi Ohba ◽  
Tomomi Hashimoto ◽  
Munekage Yamaguchi ◽  
Hidetaka Yoshimatsu ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Case Report ◽  
General Population ◽  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Respiratory Disorder ◽  
Genetic Etiology ◽  
Second Child ◽  
First Case ◽  
First Child

Congenital diaphragmatic hernia (CDH), a herniation of the abdominal contents through a defect or hypoplasia of the diaphragm, is a relatively common, severe congenital anomaly. Here we present the first case of two siblings with possibly isolated sac-type CDH and with a suspected genetic etiology. Although sibling recurrence of isolated CDH is rare, the incidence is higher than in the general population. Additionally, the second child had a more severe respiratory disorder than the first child. It is to be noted that siblings of children having isolated CDH are at risk for CDH, and prenatal evaluation should be considered individually.

Supernumerary Nostril with Complete Unilateral Cleft Lip: A Case Report and Review

2007 ◽  
Vol 44 (6) ◽  
pp. 657-659 ◽  
Author(s):  
Rajesh S. Powar ◽  
Vijay R. Tubaki
Keyword(s):  
Congenital Anomaly ◽  
Case Report ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Review Of The Literature ◽  
Rare Congenital Anomaly ◽  
First Case ◽  
The World ◽  
Supernumerary Nostril

The supernumerary nostril is an extremely rare congenital anomaly of duplication. A review of the literature shows that only 17 cases have been reported in the world. The supernumerary nostril in association with facial clefting is even more rare, with only three cases reported so far. We are reporting a case of supernumerary nostril in association with complete unilateral cleft lip without cleft palate, which happens to be the first case of its kind to be reported. Most supernumerary nostrils are situated superior to the normal nostrils and very few of them are situated at the same level or below the normal nostrils. In this case, the supernumerary nostril was placed lateral to the normal nostril.

scholarly journals Triple Fusion in the Primary Dentition from Law’s Site, Alabama (1MS100): A Case Report

2018 ◽  
Vol 23 (1) ◽  
pp. 25-27
Author(s):  
Brian D. Padgett
Keyword(s):  
United States ◽  
Congenital Anomaly ◽  
Native American ◽  
Case Report ◽  
Southeastern United States ◽  
Primary Dentition ◽  
Rare Congenital Anomaly ◽  
Clear Case ◽  
First Case ◽  
Marshall County

Dental fusion of the primary dentition is a rare congenital anomaly. Evidence in the literature of bioarchaeology is scarce. Burial MS100-14 was recovered from Law’s Site on Pine Island, in Marshall County, Alabama. Analysis of the remains found that MS100-14 presented a clear case of triple fusion of primary dentition in the maxilla. This appears to be the first case of triple fusion reported from among prehistoric Native American remains in the Southeastern United States.

Bilateral internal carotid absence: a case report of a rare congenital anomaly

2008 ◽  
Vol 17 (2) ◽  
pp. 113-116 ◽  
Author(s):  
Luis F. Gonzalez-Cuyar ◽  
Dora Lam-Himlin ◽  
Fabio Tavora ◽  
Allen Burke ◽  
Rudy J. Castellani
Keyword(s):  
Congenital Anomaly ◽  
Case Report ◽  
Internal Carotid ◽  
Rare Congenital Anomaly

CONGENITAL METACARPAL SYNOSTOSIS TREATED BY DOUBLE BONE BLOCKS TECHNIQUE: A CASE REPORT FROM THAILAND

Hand Surgery ◽  
2005 ◽  
Vol 10 (01) ◽  
pp. 131-134 ◽  
Author(s):  
Surut Jianmongkol ◽  
Tala Thammaroj ◽  
Kitiwan Vipulakorn
Keyword(s):  
Congenital Anomaly ◽  
Case Report ◽  
Surgical Techniques ◽  
Rare Condition ◽  
Rare Congenital Anomaly

Congenital metacarpal synostosis is a rare congenital anomaly in the hand, especially in our area. There were several reports of surgical techniques for correction deformities. We report this rare condition in our hospital and treatment with the metacarpal osteotomy and double bone blocks technique of grafting.

scholarly journals Rare presentation of incomplete male urethral duplication: A case report and review of literature

2021 ◽  
Vol 9 (1) ◽  
pp. 292-296
Author(s):  
Orgeness J Mbwambo ◽  
Alex Mremi ◽  
Mohamed Mbarouk ◽  
Jasper Mbwambo ◽  
Frank Bright ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Case Report ◽  
Postoperative Period ◽  
Surgical Removal ◽  
Urethral Duplication ◽  
Review Of Literature ◽  
Rare Presentation ◽  
Rare Congenital Anomaly ◽  
Accessory Urethra

Urethral duplication is a rare congenital anomaly affecting mainly males. Here, we report a case of urethral duplication in a 19 years old male presented as a scrotal sinus discharging pus for 1 year. Surgical removal of accessory urethra was done and postoperative period was uneventful.

The First Case Report of Kabuki Syndrome from the National Iranian Registry of Primary Immunodeficiencies

2021 ◽  
Vol 21 ◽  
Author(s):  
Molood Safarirad ◽  
Ali Abbaszadeh Ganji ◽  
Saba Fekrvand ◽  
Reza Yazdani ◽  
Ahmad Vosughi Motlagh ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Intellectual Disability ◽  
Definitive Diagnosis ◽  
Facial Features ◽  
Kabuki Syndrome ◽  
Rare Congenital Anomaly ◽  
Dysmorphic Features ◽  
Pathogenic Variants ◽  
First Case ◽  
Whole Exome

: Kabuki syndrome is a rare congenital anomaly/mental retardation syndrome characterized by intellectual disability, developmental delay, short stature, facial dysmorphic features including ectropion of the lateral third of the lower eyelids and long palpebral fissures, and prominent finger pads. Pathogenic variants of KMT2D (MLL2) and KDM6A are found to be the major causes of Kabuki syndrome. Here, we report the first Iranian case with Kabuki syndrome with an IQ of 79, two episodes of viral pneumonia and distinctive facial features, prominent ears and persistent fetal fingertip pads. These characteristics raised our suspicion for performing whole-exome sequencing (WES), which revealed 2 heterozygous pathogenic missense variants in the KMT2D gene: c.C10024T in exon 34 leading to p.R3342C and c.G15005A in exon 48 leading to p.R5002Q. Hence, the definitive diagnosis of Kabuki syndrome was made based on molecular findings along with the intellectual disability and characteristic facial features.

scholarly journals Incidental Finding of Annular Pancreas in a Routine Cadaveric Dissection: Case Report

2019 ◽  
Vol 36 (04) ◽  
pp. 299-302
Author(s):  
Mythraeyee Prasad ◽  
Theresa Susan Kuriakose ◽  
Sipra Rout
Keyword(s):  
Congenital Anomaly ◽  
Case Report ◽  
Duodenal Obstruction ◽  
Clinical Symptoms ◽  
Incidental Finding ◽  
Age Groups ◽  
Annular Pancreas ◽  
Present Case Report ◽  
Rare Congenital Anomaly ◽  
Variable Presentation

AbstractAnnular pancreas is a rare congenital anomaly that results from the malrotation of the ventral pancreatic bud. The presentation of annular pancreas varies: it can be asymptomatic or present clinical symptoms of duodenal obstruction that can affect all age groups, from newborns to adults. In the present case report, we describe a complete type of annular pancreas at the level of the second part of the duodenum, which was an incidental finding in a prosected specimen. This anomaly has significant clinical relevance to clinicians and radiologists due to its variable presentation. The embryological, clinical and radiological aspects of this congenital anomaly are discussed in detail in the present article.

Aplasia of the Epiglottis: A Rare Congenital Anomaly

1998 ◽  
Vol 77 (1) ◽  
pp. 51-55 ◽  
Author(s):  
Jose A. Bonilla ◽  
Michael P. Pizzuto ◽  
Linda S. Brodsky
Keyword(s):  
Heart Failure ◽  
Computed Tomography ◽  
Congenital Anomaly ◽  
Obstructive Sleep Apnea ◽  
Case Report ◽  
Clinical Course ◽  
Embryological Development ◽  
Review Of The Literature ◽  
Rare Congenital Anomaly ◽  
Obstructive Sleep

Aplasia of the epiglottis is a rare laryngeal anomaly. We present a case of absence of the epiglottis in a child whose clinical course has been followed for nine years. She required a tracheostomy at two years of age for obstructive sleep apnea which resulted in heart failure; she was eventually decannulated at age seven. This case report highlights the clinical challenges faced in the identification and treatment of the sequelae of this defect. Both endoscopic and computed tomography (CT) documentation are provided. Embryological development and a review of the literature are also discussed.

scholarly journals Partial anomalous pulmonary venous connection detected during right pneumonectomy

2019 ◽  
Vol 30 (3) ◽  
pp. 497-498
Author(s):  
Bülent Mustafa Yenigün ◽  
Gökhan Kocaman ◽  
Ayşegül Gürsoy Çoruh ◽  
Rıfat Murat Akal
Keyword(s):  
Lung Cancer ◽  
Congenital Anomaly ◽  
Case Report ◽  
Surgical Treatment ◽  
Septal Defect ◽  
Lung Resection ◽  
Rare Congenital Anomaly ◽  
The Right ◽  
Anomalous Pulmonary Venous Connection ◽  
Lung Resections

Abstract Partial anomalous pulmonary venous connection (PAPVC) is a rare congenital anomaly. Generally, it is seen on the right side and is associated with an atrial septal defect. Herein, we present a case of a 50-year-old male patient with a supracardiac type PAPVC detected during pneumonectomy for a right hilar mass. This is the second case report in the literature presenting surgical treatment of both lung cancer and PAPVC using pneumonectomy. Thoracic surgeons should be aware of this anomaly when they are planning to perform a major lung resection. If PAPVC and lung cancer are in the same lobe, anatomical lung resections including pneumonectomy can be safely performed.

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