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 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 CASE REPORT

2013 ◽  
Vol 03 (01) ◽  
pp. 83-85
Author(s):  
Naveen N. S. ◽  
Vishal K. ◽  
Vinay K. V.
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Autosomal Recessive ◽  
Ultrasound Examination ◽  
Autosomal Recessive Disorder ◽  
Polycystic Kidneys ◽  
Antenatal Ultrasound

AbstractMeckel Gruber syndrome (MGS) is a rare lethal autosomal recessive disorder. It is characterized by triad of features having occipital meningoencephalocoele, polycystic kidneys and post-axial polydactyly. We report a rare case of MGS which was diagnosed by antenatal ultrasound examination and confirmed later when aborted at 21 weeks of gestation.

scholarly journals Unilateral lung hypoplasia presenting in seventh decade of life: a rare case report

2018 ◽  
Vol 5 (6) ◽  
pp. 1532
Author(s):  
Baishakhi Chandra ◽  
Bhaskar K. ◽  
Paramjyothi G. K.
Keyword(s):  
Case Report ◽  
Ct Scan ◽  
Lung Volume ◽  
Clinical Condition ◽  
Rare Case ◽  
Pulmonary Hypoplasia ◽  
Lung Hypoplasia ◽  
Late Adolescent ◽  
Left Hemithorax ◽  
Rare Case Report

Pulmonary hypoplasia is a bronchopulmonary foregut anomaly in which gross morphology of the lung is preserved but there is decrease in the number or size of airways, vessels, and alveoli. Unilateral pulmonary hypoplasia is a rare clinical condition and most patients reported in the literature are newborns and infants, but patients may remain asymptomatic until late adolescent or till adulthood 65 years old male with parkinsonism was referred to our department with complaints of recent chest symptoms. Clinical examination revealed loss of lung volume in left hemithorax. CT scan thorax and bronchoscopy confirmed the diagnosis of left sided pulmonary hypoplasia. This case report highlights the possibility of pulmonary hypoplasia as one of the differential diagnoses in adult patients presenting with loss of lung volume and to the best of our knowledge he is the eldest patient so far reported.

scholarly journals Ulnar longitudinal deficiency: a rare case report and review

2020 ◽  
Vol 7 (1) ◽  
pp. 159
Author(s):  
Akshay Lamba ◽  
Naresh Kumar ◽  
Chaitanya Krishna ◽  
Sargam Chhabra
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Flexion Deformity ◽  
Female Ratio ◽  
Ulnar Deviation ◽  
Live Births ◽  
Rare Case Report ◽  
Ulnar Longitudinal Deficiency ◽  
Male To Female ◽  
Fixed Flexion Deformity

<p class="abstract">Ulnar hemimelia is a rare postaxial partial or complete longitudinal deficiency of ulna. It has an estimated incidence of 1/100,000-150,000 live births, with a male to female ratio of 3:2. There is usually ulnar deviation of hand and shortening of forearm. Radial head subluxation and fixed flexion deformity of the hand may be associated with it. Complex carpal, metacarpal, and digital abnormalities including absence of triquetrum, capitate and three fingered hand (tridactyly) are additional findings commonly found in association. Here, we present a case of a 17-year-old female with left sided ulnar club hand due to isolated partial ulnar aplasia.</p>

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 Extensive nephroureteric calcification presenting with renal failure: A rare case report

2015 ◽  
Vol 0 (0) ◽  
pp. 0
Author(s):  
AnupS Desai ◽  
SiddangoudaB Patil ◽  
VinayS Kundargi ◽  
AshokN Biradar
Keyword(s):  
Renal Failure ◽  
Case Report ◽  
Rare Case ◽  
Rare Case Report
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