scholarly journals Autosomal dominant Kenny-Caffey syndrome with congenital hypoparathyroidism, short stature and normal intellect: a case report

2015 ◽  
Vol 2015 (S1) ◽  
Author(s):  
Mary Abraham ◽  
Li Dong ◽  
Shoshana Rath ◽  
Susan O’Connell ◽  
Fiona McKenzie ◽  
...  
Keyword(s):  
Case Report ◽  
Short Stature ◽  
Autosomal Dominant

scholarly journals Isolated Pulmonary Valvular Stenosis – Noonan Syndrome – A Case Report

1970 ◽  
Vol 5 (2) ◽  
pp. 91-93
Author(s):  
Md Abu Siddique ◽  
Md Mhurshid Ahmed ◽  
Md Durul Hoda ◽  
Yeshey Penjore ◽  
Syed Ali Ahsan ◽  
...  
Keyword(s):  
Case Report ◽  
Short Stature ◽  
Key Words ◽  
Noonan Syndrome ◽  
Autosomal Dominant ◽  
Pulmonary Stenosis ◽  
Bleeding Diathesis ◽  
Short Neck ◽  
Motor Delay ◽  
Valvular Stenosis

Noonan syndrome is an autosomal dominant dysmorphic characterized by hypertelorism, a downward eyeslant, and low-set posteriorly rotated ears. Other features include short stature, a short neck with webbing or redundancy of skin, cardiac anomalies, epicanthic fold, deafness, motor delay, and a bleeding diathesis. In this case report a 20 years male presented with severe pulmonary stenosis with classical sketetal abnomalities. Key words: Autosomal dominant; pulmonary stenosis DOI: 10.3329/uhj.v5i2.4564 University Heart Journal Vol.5(2) July 2009 pp.91-93

scholarly journals Cleidocranial Dysplasia: A Case Report

1970 ◽  
Vol 21 (2) ◽  
pp. 166-169
Author(s):  
M Azizul Haque ◽  
ARM Saifuddin Ekram ◽  
M Durrul Huda
Keyword(s):  
Case Report ◽  
Short Stature ◽  
Autosomal Dominant ◽  
Cleidocranial Dysplasia ◽  
Supernumerary Teeth ◽  
Autosomal Dominant Disorder ◽  
Skeletal Abnormalities ◽  
Wide Range

Cleidocranial dysplasia is an autosomal dominant disorder with a wide range of expression, characterized by clavicular aplasia or hypoplasia, retarded cranial ossification, supernumerary teeth, short stature and a variety of other skeletal abnormalities. We are reporting a case of Cleidocranial dysplasia with literature is review. doi: 10.3329/taj.v21i2.3799   TAJ 2008; 21(2): 166-169   

Birt-Hogg-Dubé Syndrome: A Case Report Describing Sonographic Evaluation of Salivary Gland Oncocytomas

2019 ◽  
Vol 2 ◽  
pp. 5
Author(s):  
Kevin Kapcio ◽  
Kamila Skalski ◽  
Vikram Dogra
Keyword(s):  
Salivary Gland ◽  
Case Report ◽  
Renal Cell ◽  
Autosomal Dominant ◽  
Colonic Polyps ◽  
Sonographic Evaluation ◽  
Parathyroid Adenomas ◽  
Pulmonary Cysts ◽  
Renal Screening ◽  
Bhd Syndrome

Birt-Hogg-Dubé (BHD) syndrome is a rare hereditary disorder associated with autosomal dominant hereditary epithelial carcinomas, in which patients have an increased incidence of renal cell carcinomas, scattered hamartomas, pulmonary cysts, and spontaneous pneumothoraces. Other less common findings include lipomas, parathyroid adenomas, salivary gland tumors, and colonic polyps/tumors. Early diagnosis of BHD can help establish renal screening and reduce mortality by early detection and more effective treatment of renal cell carcinoma. This case report describes the sonographic features of salivary gland oncocytomas found in a patient with BHD.

scholarly journals A Challenging Case of a Physeal Bar Endoscopic-Assisted Resection in a Short Stature Child: Case Report and Literature Review

2021 ◽  
pp. 115-120
Author(s):  
Melanie Ribau ◽  
Mário Baptista ◽  
Nuno Oliveira ◽  
Bruno Direito Santos ◽  
Pedro Varanda ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Short Stature ◽  
Clinical Presentation ◽  
Normal Growth ◽  
Limb Length Discrepancy ◽  
Complete Excision ◽  
Physeal Bar ◽  
Surgical Options ◽  
The Ideal

Partial physeal bars may develop after injury to the growth plate in children, eventually leading to disturbance of normal growth. Clinical presentation, age of the patient, and the anticipated growth will dictate the best treatment strategy. The ideal treatment for a partial physeal bar is complete excision to allow growth resumption by the remaining healthy physis. There are countless surgical options, some technically challenging, that must be weighted according to each case’s particularities. We reviewed the current literature on physeal bars while reporting the challenging case of a short stature child submitted to a femoral physeal bar endoscopic-assisted resection with successful growth resumption. This case dares surgeons to consider all options when treating limb length discrepancy, such as the endoscopic-assisted resection which might offer successful results.

scholarly journals Sertoli-Leydig Cell Tumour and DICER1 Mutation: A Case Report and Review of the Literature

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
B. Wormald ◽  
S. Elorbany ◽  
H. Hanson ◽  
J. W. Williams ◽  
S. Heenan ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Leydig Cell ◽  
Autosomal Dominant ◽  
Review Of The Literature ◽  
Autosomal Dominant Fashion ◽  
Rare Tumours ◽  
Leydig Cell Tumour ◽  
Underlying Pathology ◽  
Leydig Cell Tumours

Sertoli-Leydig cell tumours of the ovary (SLCT) are rare tumours predominantly caused by mutations in the DICER1 gene. We present a patient with a unilateral SLCT who had an underlying germline DICER1 gene mutation. We discuss the underlying pathology, risks, and screening opportunities available to those with a mutation in this gene as SLCT is only one of a multitude of other tumours encompassing DICER1 syndrome. The condition is inherited in an autosomal dominant fashion. As such, genetic counselling is a key component of the management of women with SLCT.

scholarly journals Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature

2017 ◽  
Vol 20 (1) ◽  
pp. 91-97 ◽  
Author(s):  
Alfonso Hisado-Oliva ◽  
Alba Ruzafa-Martin ◽  
Lucia Sentchordi ◽  
Mariana F A Funari ◽  
Carolina Bezanilla-López ◽  
...  
Keyword(s):  
Short Stature ◽  
Natriuretic Peptide ◽  
Autosomal Dominant

Iliac Pseudoaneurysm, Only a Manifestation With More Causes: A Case Report

2021 ◽  
pp. 152660282110250
Author(s):  
Barbara Infante ◽  
Adelaide Di Lorenzo ◽  
Dario Troise ◽  
Angela M. R. Ferrante ◽  
Maurizio Ruggieri ◽  
...  
Keyword(s):  
Risk Factor ◽  
Case Report ◽  
Kidney Disease ◽  
Surgical Procedures ◽  
Arterial Wall ◽  
Autosomal Dominant ◽  
Vascular Complication ◽  
Polycystic Kidney ◽  
Vessel Lumen ◽  
Autosomal Dominant Polycystic Kidney

Pseudoaneurysm is due to a disruption in arterial wall continuity. It forms a sac that communicates with the vessel lumen and is surrounded by the compressed, surrounding tissues and not by the wall of the artery from which the lesion arises. Many causes can predispose to the formation of a pseudoaneurysm such as trauma, surgical procedures, anticoagulation. In our patient another important risk factor for the formation of a pseudoaneurysm is ADPKD (autosomal dominant polycystic kidney disease) that can cause vascular complication. The mechanisms leading to the genesis of the pseudoaneurysms in our patient are unknown, but the clinicians should bear in mind when evaluating this type of patients that ADPKD may have a various range of systemic cardiovascular manifestation.

scholarly journals Familial Hypocalciuric Hypercalcaemia (FHH): A Case Report

2018 ◽  
Vol 3 (09) ◽  
Author(s):  
Tivya Kulasegaran ◽  
Pranav Kumar
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Parathyroid Hormone ◽  
Autosomal Dominant ◽  
Genetic Test ◽  
Calcium Sensor ◽  
Clearance Ratio ◽  
Autosomal Dominant Disorder ◽  
Casr Gene ◽  
Inactivating Mutation

Familial hypocalciuric hypercalcaemia (FHH) is a rare genetic autosomal dominant disorder, with 3 variants described. An inactivating mutation in the calcium sensor receptor (CASR) gene causes the subtype 1, which represents 65% of the cases. Inactivation of Ca-sensing receptors (CaSR) can also lead to hypercalcemia associated with increased parathyroid hormone (PTH) secretion.[1] It is characterised by causes mild asymptomatic hypercalcemia[2] and hypocalciuria with normal or elevated PTH. FHH is generally asymptomatic and treatment is not needed. Differential diagnosis with primary hyperparathyroidism (PHPT) is crucial and based on calcium-creatinine clearance ratio (CCCR), which, when under 0.02 points to the diagnosis of FHH.[3] Genetic test is necessary for confirmation.[4]

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