scholarly journals Goldenhar Syndrome Associated with Extensive Arterial Malformations

2015 ◽  
Vol 2015 ◽  
pp. 1-8 ◽  
Author(s):  
Renee Frances Modica ◽  
L. Daphna Yasova Barbeau ◽  
Jennifer Co-Vu ◽  
Richard D. Beegle ◽  
Charles A. Williams
Keyword(s):  
Main Pulmonary Artery ◽  
Abnormal Development ◽  
Goldenhar Syndrome ◽  
Iliac Arteries ◽  
Vascular Abnormalities ◽  
Ct Angiogram ◽  
Branchial Arches ◽  
The Common ◽  
Vertebral Defects ◽  
Left Thyroid Lobe

Goldenhar Syndrome is characterized by craniofacial, ocular and vertebral defects secondary to abnormal development of the 1st and 2nd branchial arches and vertebrae. Other findings include cardiac and vascular abnormalities. Though these associations are known, the specific anomalies are not well defined. We present a 7-month-old infant with intermittent respiratory distress that did not improve with respiratory interventions. Echocardiogram suggested a double aortic arch. Cardiac CT angiogram confirmed a right arch and aberrant, stenotic left subclavian artery, dilation of the main pulmonary artery, and agenesis of the left thyroid lobe. Repeat echocardiograms were concerning for severely dilated coronary arteries. Given dilation, a rheumatologic workup ensued, only identifying few weakly positive autoantibodies. Further imaging demonstrated narrowing of the aorta below the renal arteries and extending into the common iliac arteries and proximal femoral arteries. Given a physical exam devoid of rheumatologic findings, only weakly positive autoantibodies, normal inflammatory markers, and presence of the coronary artery dilation, the peripheral artery narrowings were not thought to be vasculitic. This case illustrates the need to identify definitive anomalies related to Goldenhar Syndrome. Although this infant’s presentation is rare, recognition of specific vascular findings will help differentiate Goldenhar Syndrome from other disease processes.

SIR 2003 Film Panel Case 2: Tumor Emboli to the Common Iliac Arteries

2003 ◽  
Vol 14 (5) ◽  
pp. 656-658
Author(s):  
Danielle B. Leighton ◽  
Sun Ho Ahn ◽  
Timothy P. Murphy
Keyword(s):  
Iliac Arteries ◽  
The Common ◽  
Tumor Emboli ◽  
Common Iliac Arteries

scholarly journals THE CLINICAL CASE OF HEMIFACIAL MICROSOMIA IN THE NEWBORN BOY FROM MOTHER WITH Z-21

2021 ◽  
Vol 11 (2(40)) ◽  
pp. 64-67
Author(s):  
I.V. Lastivka ◽  
A.G. Babintseva ◽  
V.V. Antsupova ◽  
А.І. Peryzhniak ◽  
І.V. Koshurba ◽  
...  
Keyword(s):  
Clinical Case ◽  
Septal Defect ◽  
Neonatal Period ◽  
Hemifacial Microsomia ◽  
Internal Factors ◽  
Vascular Abnormalities ◽  
Branchial Arches ◽  
The Face ◽  
The Right

Hemifacial Microsomia (HFM) is a term used to identify facial deformities associated with the development ofthe first and second pairs of branchial arches, characterized by underdevelopment of one half of the face. One typeof hemifacial microsomia is oculo-auriculo-vertebral dysplasia or Goldenhar syndrome.The incidence of HFM is 1:3500-1:7000 of live births and occurs in 1 case per 1000 children with congenitaldeafness. The ratio of boys to girls is 3:2. The etiology and type of inheritance is studied insufficiently. There are threepossible pathogenetic models: vascular abnormalities and hemorrhages in the craniofacial region, damage of Meckel'scartilage, and abnormal cell development of the cranial nerve crest. Environmental factors, maternal internal factors,and genetic factors (OTX2, PLCD3, and MYT1 mutations) may also cause the development of hemifacial microsomia.The article demonstrates a clinical case of hemifacial microsomia in a newborn boy from a mother with Z-21 inthe form of deformation of the left auricle with atresia of the auditory canal and "false" ears on the right, combinedwith congenital anomaly of heart (atrial septal defect) and brain (hypoplasia of the corpus callosum).Emphasis is placed on the need of involving a multidisciplinary team of specialists in the management of thispatient both in the neonatal period and in the system of subsequent follow-up.

scholarly journals Do you know this syndrome?

2012 ◽  
Vol 87 (3) ◽  
pp. 495-497
Author(s):  
Luiz Maurício Costa Almeida ◽  
Michelle dos Santos Diniz ◽  
Lorena dos Santos Diniz
Keyword(s):  
Multidisciplinary Approach ◽  
Goldenhar Syndrome ◽  
Clinical Aspects ◽  
Genetic Syndrome ◽  
Live Births ◽  
Mandibular Hypoplasia ◽  
Radiologic Findings ◽  
Branchial Arches ◽  
Skin Tags ◽  
Systemic Manifestations

Goldenhar syndrome is a sporadic or inherited genetic syndrome characterized by limbal dermoids, preauricular skin tags and mandibular hypoplasia. Vertebral abnormalities may occur. The incidence of this syndrome ranges from 1 in 5,600 to 1 in >20,000 live births. It consists of abnormalities involving the first and second branchial arches. The etiology of the syndrome is heterogeneous. Diagnosis should be based principally on clinical aspects, which should be associated with the patient's systemic conditions and radiologic findings. Treatment depends on the patient's age and systemic manifestations, with a multidisciplinary approach often being required.

Clustered arrangement of winged helix genes fkh-6 and MFH-1: possible implications for mesoderm development

Development ◽  
1996 ◽  
Vol 122 (6) ◽  
pp. 1751-1758 ◽  
Author(s):  
K.H. Kaestner ◽  
S.C. Bleckmann ◽  
A.P. Monaghan ◽  
J. Schlondorff ◽  
A. Mincheva ◽  
...  
Keyword(s):  
Expression Patterns ◽  
Chromosome 8 ◽  
Abnormal Development ◽  
Forkhead Transcription Factor ◽  
Winged Helix ◽  
Mesoderm Development ◽  
Physical Linkage ◽  
The Common ◽  
Somitic Mesoderm ◽  
Possible Cause

The ‘winged helix’ or ‘forkhead’ transcription factor gene family is defined by a common 100 amino acid DNA binding domain which is a variant of the helix-turn-helix motif. Here we describe the structure and expression of the mouse fkh-6 and MFH-1 genes. Both genes are expressed in embryonic mesoderm from the headfold stage onward. Transcripts for both genes are localised mainly to mesenchymal tissues, fkh-6 mRNA is enriched in the mesenchyme of the gut, lung, tongue and head, whereas MFH-1 is expressed in somitic mesoderm, in the endocardium and blood vessels as well as the condensing mesenchyme of the bones and kidney and in head mesenchyme. Both genes are located within a 10 kb region (in mouse chromosome 8 at 5.26 +/− 2.56 cM telomeric to Actsk1. The close physical linkage of these two winged helix genes is conserved in man, where the two genes map to chromosome 16q22-24. This tandem arrangement suggests the common use of regulatory mechanisms. The fkh-6/MFH-1 locus maps close to the mouse mutation amputated, which is characterised by abnormal development of somitic and facial mesoderm. Based on the expression patterns we suggest that a mutation in MFH-1, not fkh-6 is the possible cause for the amputated phenotype.

Anatomic study on the blood supply to the femoral head following hip resurfacing using the posterior approach

2019 ◽  
Vol 29 (5) ◽  
pp. 558-563
Author(s):  
Mohammed Alsheri ◽  
Kamal Bali ◽  
Pamela Railton ◽  
Dragana Ponjevic ◽  
John Matyas ◽  
...  
Keyword(s):  
Femoral Head ◽  
Blood Vessels ◽  
Posterior Approach ◽  
Neck Region ◽  
Maximum Flow ◽  
Hip Resurfacing ◽  
Iliac Arteries ◽  
India Ink ◽  
The Common ◽  
Good Flow

Objectives: The aim of this study was to investigate femoral head perfusion following cadaveric hip resurfacing using the posterior approach. Methods: This cadaveric study involved injecting Higgins India ink into the common iliac arteries and evaluating the distribution of ink in the resurfaced heads using the modified Spalteholz technique. The study consisted of 2 parts. The 1st part involved utilisation of 22 cadaveric hips for establishing the injection and histological technique. The 2nd part of the study included 4 control cadaveric hips and 12 cadaveric hips with posterior approach hip resurfacing. Each specimen was divided into 15 zones (12 head zones and 3 neck zones) to evaluate detailed geographic distribution of dye-containing blood vessels. Results: All 4 controls had good flow of ink to all head zones and the neck region. In all the resurfaced heads, there was good flow to all the neck zones. 6 resurfaced specimens had no dye flow to any of the head zones. In the remaining 6, dye-stained vessels were seen variably in the anterior and middle zones but were consistently absent in the posterior zones of the head. Zones representing the antero-inferior parts of femoral head had the maximum flow of ink, followed by zones representing middle-inferior parts. Conclusions: Posterior approach for hip resurfacing arthroplasty results in vascular insult to the femoral head, with posterior zones more affected than the anterior zones. The persistence of the dye in the intraosseous blood vessels of the neck and in anteroinferior head may be a source of revascularisation of the femoral head after posterior approach hip resurfacing.

Does temproray bilateral balloon occlusion of the common iliac arteries reduce the need for intra-operative blood transfusion in cases of placenta accretism?

2016 ◽  
Vol 61 (3) ◽  
pp. 311-316 ◽  
Author(s):  
Sinan Al-Hadethi ◽  
Shane Fernando ◽  
Simon Hughes ◽  
Ajay Thakorlal ◽  
Adam Seruga ◽  
...  
Keyword(s):  
Blood Transfusion ◽  
Balloon Occlusion ◽  
Iliac Arteries ◽  
The Common ◽  
Common Iliac Arteries

Temporary balloon occlusion of the common iliac arteries in patients with post-cesarean uterine scar and placenta accreta: Advantages and possible complications

2016 ◽  
Vol 12_2016 ◽  
pp. 70-75
Author(s):  
Kurtser M.A. Kurtser ◽  
Breslav I.Yu. Breslav ◽  
Latyshkevich O.A. Latyshkevich ◽  
Grigoryan A.M. Grigoryan ◽  
◽  
...  
Keyword(s):  
Placenta Accreta ◽  
Balloon Occlusion ◽  
Iliac Arteries ◽  
The Common ◽  
Uterine Scar ◽  
Temporary Balloon Occlusion ◽  
Common Iliac Arteries
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