scholarly journals Surgical Correction of Cardiac Defects with Ellis Van Crevald Syndrome – A Rare Case Report

2021 ◽  
Vol 24 (1) ◽  
pp. E009-E013
Author(s):  
DIR Choudhury ◽  
Saikat DasGupta ◽  
Mauin Uddin ◽  
Siddhartha Shankar Howlader ◽  
PK Chanda ◽  
...  
Keyword(s):  
Case Report ◽  
Mitral Valve ◽  
Mitral Regurgitation ◽  
Rare Case ◽  
Autosomal Recessive ◽  
Septal Defect ◽  
Surgical Repair ◽  
Autosomal Recessive Disorder ◽  
Cardiac Defects ◽  
Rare Case Report

Ellis-Van Creveld (EVC) syndrome is an autosomal recessive disorder. Around 150 cases are described in published literature and in Bangladesh, it is even rare.  The patient usually comes with short stature, dental deformity, and cardiac deformity. Here, we present the case of a patient with ostium primum atrial septal defect (ASD) with moderate mitral regurgitation who underwent surgical repair of ASD and mitral valve replacement.

scholarly journals Meckel Gruber Syndrome: a rare case report

2017 ◽  
Vol 5 (1) ◽  
pp. 262
Author(s):  
Manish Verma ◽  
Shruti Sharma ◽  
Kiran Suthar ◽  
Beena Thada
Keyword(s):  
Renal Failure ◽  
Case Report ◽  
Rare Case ◽  
Autosomal Recessive ◽  
Pulmonary Hypoplasia ◽  
Autosomal Recessive Disorder ◽  
Polycystic Kidneys ◽  
Rare Autosomal Recessive Disorder ◽  
Live Births ◽  
Rare Case Report

Meckel gruber syndrome or dysencephalia splanchnocystica, is a rare autosomal recessive disorder caused by failure of mesodermal induction. Worldwide incidence of MGS is 1 per 13,500-140,000 live births. It is characterized by triad of occipital Meningoencephalocele, polycystic kidneys and post-axial polydactyly. Most fetuses affected with this syndrome die before birth due to oligohydramnios, renal failure or pulmonary hypoplasia. We report a rare case of MGS who delivered live at birth with classical features.

scholarly journals Outcomes and dynamic changes of the mitral valve after surgical repair of mitral regurgitation in patients with an atrial septal defect

2019 ◽  
Vol 3 (4) ◽  
pp. 158-164
Author(s):  
Ok Jeong Lee ◽  
Jinyoung Song ◽  
June Huh ◽  
I-Seok Kang ◽  
Ji-Hyuk Yang ◽  
...  
Keyword(s):  
Mitral Valve ◽  
Mitral Regurgitation ◽  
Atrial Septal Defect ◽  
Septal Defect ◽  
Surgical Repair ◽  
Dynamic Changes

scholarly journals Hammock mitral valve: A rare case report

2014 ◽  
Vol 41 (2) ◽  
pp. 143
Author(s):  
VeereshF. Manvi ◽  
M.D. Dixit ◽  
SrinivasM. Kini ◽  
NidhiGoel Manvi ◽  
Anand Vagrali ◽  
...  
Keyword(s):  
Case Report ◽  
Mitral Valve ◽  
Rare Case ◽  
Rare Case Report

Surgical Repair of a Hepatic Artery Aneurysm: A Rare Case Report

2013 ◽  
Vol 22 (1) ◽  
pp. 45-47
Author(s):  
Akçan AKKAYA ◽  
Kemalettin ERDEM ◽  
Onursal BUĞRA ◽  
Emine DAĞISTAN ◽  
Orhan BOZOĞLAN ◽  
...  
Keyword(s):  
Case Report ◽  
Hepatic Artery ◽  
Rare Case ◽  
Surgical Repair ◽  
Artery Aneurysm ◽  
Hepatic Artery Aneurysm ◽  
Rare Case Report

scholarly journals XERODERMA PIGMENTOSA WITH MULTIPLE CUTANEOUS MALIGNANCIES– A RARE CASE REPORT AND REVIEW OF LITERATURE

2013 ◽  
Vol 03 (01) ◽  
pp. 76-78
Author(s):  
Rohan Shetty ◽  
Girish B. S. ◽  
Rajesh Ballal ◽  
Harish S. Permi ◽  
Pramodh Makannavar ◽  
...  
Keyword(s):  
Rare Case ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Skin Aging ◽  
Malignant Neoplasms ◽  
Review Of Literature ◽  
Rare Case Report ◽  
The Face ◽  
Xeroderma Pigmentosa ◽  
Increase In Risk

AbstractXeroderma pigmentosa is a rare autosomal recessive disorder, characterized by photosensitivity, pigmentary changes, premature skin aging, and marked increase in risk of developing malignant neoplasms of the skin and eyes. Here we present a 13 year old girl with xeroderma pigmentosa who developed multiple cutaneous malignancies in the face and upper limb.

scholarly journals An observation of autosomal recessive hyper-IgE syndrome: a rare case report

2017 ◽  
Vol 104 (6) ◽  
pp. 676-679
Author(s):  
Tasleem Arif ◽  
Mohammad Adil ◽  
Syed Suhail Amin ◽  
Konchok Dorjay
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Autosomal Recessive ◽  
Hyper Ige Syndrome ◽  
Rare Case Report

scholarly journals A newborn with Dubowitz syndrome: a case report

2014 ◽  
Author(s):  
Özkan İlhan ◽  
Senem Alkan ◽  
Yaşar Bekir Kublay ◽  
Esra Arun Özer
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Ventricular Septal Defect ◽  
Short Stature ◽  
Skin Eruption ◽  
Autosomal Recessive ◽  
Septal Defect ◽  
Autosomal Recessive Disorder ◽  
Severe Mental Retardation ◽  
Dubowitz Syndrome

Dubowitz syndrome was first reported in 1965 by Victor Dubowitz. Dubowitz syndrome is a rare autosomal recessive disorder characterized by microcephaly, short stature, abnormal faces, eczematous skin eruption, and mild to severe mental retardation. In this review, we describe a female newborn with microcephaly, micrognathia, high narrow, syndactyly, clinodactyly, ventricular septal defect, poor feeding and sacral dimple. Here, we heard the requirement to report this case because of rarity.

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