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Meriem Mostefakara - One of the best experts on this subject based on the ideXlab platform.

  • anatomy of the ventricular septal defect in outflow tract defects similarities and differences
    The Journal of Thoracic and Cardiovascular Surgery, 2015
    Co-Authors: Meriem Mostefakara, Elie Fadel, Emre Belli, Damien Bonnet, Lucile Houyel
    Abstract:

    Abstract Objective The study objective was to analyze the anatomy of the ventricular septal defect found in various phenotypes of outflow tract defects. Methods We reviewed 277 heart specimens with isolated outlet ventricular septal defect without subpulmonary stenosis (isolated outlet ventricular septal defect, 19); Tetralogy of Fallot (71); Tetralogy of Fallot with pulmonary atresia (51); common arterial trunk (54); double outlet right ventricle (65) with subaortic, doubly committed, or subpulmonary ventricular septal defect; and interrupted aortic arch type B (17). Special attention was paid to the rims of the ventricular septal defect viewed from the right ventricular side and the relationships between the tricuspid and aortic valves. Results The ventricular septal defect was always located in the outlet of the right ventricle, between the 2 limbs of the septal band. There was a fibrous continuity between the tricuspid and aortic valves in 74% of specimens with isolated outlet ventricular septal defect, 66% of specimens with Tetralogy of Fallot, 39% of specimens with Tetralogy of Fallot with pulmonary atresia, 4.6% of specimens with double outlet right ventricle, 1.8% of specimens with common arterial trunk, and zero of specimens with interrupted aortic arch type B ( P Conclusions The ventricular septal defect in outflow tract defects is always an outlet ventricular septal defect, cradled between the 2 limbs of the septal band. However, there are some differences regarding the posteroinferior and superior rims of the ventricular septal defect. These differences suggest an anatomic continuum from the isolated outlet ventricular septal defect to the interrupted aortic arch type B rather than distinct physiologic phenotypes, related to various degrees of abnormal rotation of the outflow tract during heart development: minimal in isolated outlet ventricular septal defect; incomplete in Tetralogy of Fallot, Tetralogy of Fallot with pulmonary atresia, and double outlet right ventricle; absent in common arterial trunk; and excessive in interrupted aortic arch type B.

Kizilgün M - One of the best experts on this subject based on the ideXlab platform.

  • Goldenhar Syndrome Associated with Growth Hormone Deficiency
    Genetic Counseling, 2008
    Co-Authors: Yusufoğlu Am, Ceylaner S, Kibar E, Ekici F, Ergun Cetinkaya, Zehra Aycan, Kizilgün M
    Abstract:

    Summary: Goldenhar syndrome associated with growth hormone deficiency: Goldenhar syndrome is a rare disorder of unknown etiology. The most frequent findings are vertebral defects, hemifacial microsomia and ear abnormalities. We present an 8-year-old boy with oculo-auriculo-vertebral (Goldenhar) syndrome. He also had a parachute mitral valve and growth hormone deficiency. Parachute mitral valve is a previously unreported finding while growth hormone deficiency was reported just in one case in the literature. Key-words: Goldenhar syndrome - Growth hormone deficiency INTRODUCTION Oculo-auriculo-vertebral spectrum (OAVS) is a complex syndrome characterized by malformation of structures derived from the first and second branchial arches (8). Most cases are sporadic although some autosomal dominant familial cases have been reported. Phenotypic characteristics of OAVS are asymmetrically but bilaterally affected face, mandibular hypoplasia, ear anomalies (microtia with preauricular tags, atretic auditory canal), vertebral anomalies (cervical spine fusion, craniocervical base anomalies, Cl anomalies, hemivertebrae, scoliosis and kyphosis), renal anomalies, cardiac anomalies (ventricular septal defect, cardiac situs inversus, Fallot Tetralogy, pulmonary stenosis), eye anomalies (epibulbar dermoid, coloboma of the eyelid, iris or the optic nerve) (3, 4, 9), and genital anomalies (Mullerian duct) (1). Males (65%) and right body side is more often affected (58.4%) (7). Expression of the condition is extremely variable, and both etiology and pathogenesis are heterogeneous. Here we report an OAV spectrum patient with a rare mitral valve anomaly and growth hormone deficiency. CASE REPORT This 8-years-old male patient was admitted to the hospital because of short stature. He was born to healthy, fifth degree consanguineous parents after an uncomplicated term pregnancy with a birth weight of 1800 gram. He was born by cesarean section because of breech presentation. He was operated for aortic stenosis at the age of 8 years. Physical examination revealed height of 106.5 cm ( All of the facial, auricular and vertebral anomalies were consistent with Goldenhar syndrome. We followed him up for two years and when he was 10.8 years old his weight was 25 kg (

  • Goldenhar Syndrome Associated with Growth Hormone Deficiency
    Genetic Counseling, 2008
    Co-Authors: Yusufoğlu Am, Ceylaner S, Kibar E, Ekici F, Ergun Cetinkaya, Zehra Aycan, Kizilgün M
    Abstract:

    Summary: Goldenhar syndrome associated with growth hormone deficiency: Goldenhar syndrome is a rare disorder of unknown etiology. The most frequent findings are vertebral defects, hemifacial microsomia and ear abnormalities. We present an 8-year-old boy with oculo-auriculo-vertebral (Goldenhar) syndrome. He also had a parachute mitral valve and growth hormone deficiency. Parachute mitral valve is a previously unreported finding while growth hormone deficiency was reported just in one case in the literature. Key-words: Goldenhar syndrome - Growth hormone deficiency INTRODUCTION Oculo-auriculo-vertebral spectrum (OAVS) is a complex syndrome characterized by malformation of structures derived from the first and second branchial arches (8). Most cases are sporadic although some autosomal dominant familial cases have been reported. Phenotypic characteristics of OAVS are asymmetrically but bilaterally affected face, mandibular hypoplasia, ear anomalies (microtia with preauricular tags, atretic auditory canal), vertebral anomalies (cervical spine fusion, craniocervical base anomalies, Cl anomalies, hemivertebrae, scoliosis and kyphosis), renal anomalies, cardiac anomalies (ventricular septal defect, cardiac situs inversus, Fallot Tetralogy, pulmonary stenosis), eye anomalies (epibulbar dermoid, coloboma of the eyelid, iris or the optic nerve) (3, 4, 9), and genital anomalies (Mullerian duct) (1). Males (65%) and right body side is more often affected (58.4%) (7). Expression of the condition is extremely variable, and both etiology and pathogenesis are heterogeneous. Here we report an OAV spectrum patient with a rare mitral valve anomaly and growth hormone deficiency. CASE REPORT This 8-years-old male patient was admitted to the hospital because of short stature. He was born to healthy, fifth degree consanguineous parents after an uncomplicated term pregnancy with a birth weight of 1800 gram. He was born by cesarean section because of breech presentation. He was operated for aortic stenosis at the age of 8 years. Physical examination revealed height of 106.5 cm ( All of the facial, auricular and vertebral anomalies were consistent with Goldenhar syndrome. We followed him up for two years and when he was 10.8 years old his weight was 25 kg (

Lucile Houyel - One of the best experts on this subject based on the ideXlab platform.

  • anatomy of the ventricular septal defect in outflow tract defects similarities and differences
    The Journal of Thoracic and Cardiovascular Surgery, 2015
    Co-Authors: Meriem Mostefakara, Elie Fadel, Emre Belli, Damien Bonnet, Lucile Houyel
    Abstract:

    Abstract Objective The study objective was to analyze the anatomy of the ventricular septal defect found in various phenotypes of outflow tract defects. Methods We reviewed 277 heart specimens with isolated outlet ventricular septal defect without subpulmonary stenosis (isolated outlet ventricular septal defect, 19); Tetralogy of Fallot (71); Tetralogy of Fallot with pulmonary atresia (51); common arterial trunk (54); double outlet right ventricle (65) with subaortic, doubly committed, or subpulmonary ventricular septal defect; and interrupted aortic arch type B (17). Special attention was paid to the rims of the ventricular septal defect viewed from the right ventricular side and the relationships between the tricuspid and aortic valves. Results The ventricular septal defect was always located in the outlet of the right ventricle, between the 2 limbs of the septal band. There was a fibrous continuity between the tricuspid and aortic valves in 74% of specimens with isolated outlet ventricular septal defect, 66% of specimens with Tetralogy of Fallot, 39% of specimens with Tetralogy of Fallot with pulmonary atresia, 4.6% of specimens with double outlet right ventricle, 1.8% of specimens with common arterial trunk, and zero of specimens with interrupted aortic arch type B ( P Conclusions The ventricular septal defect in outflow tract defects is always an outlet ventricular septal defect, cradled between the 2 limbs of the septal band. However, there are some differences regarding the posteroinferior and superior rims of the ventricular septal defect. These differences suggest an anatomic continuum from the isolated outlet ventricular septal defect to the interrupted aortic arch type B rather than distinct physiologic phenotypes, related to various degrees of abnormal rotation of the outflow tract during heart development: minimal in isolated outlet ventricular septal defect; incomplete in Tetralogy of Fallot, Tetralogy of Fallot with pulmonary atresia, and double outlet right ventricle; absent in common arterial trunk; and excessive in interrupted aortic arch type B.

Damien Bonnet - One of the best experts on this subject based on the ideXlab platform.

  • anatomy of the ventricular septal defect in outflow tract defects similarities and differences
    The Journal of Thoracic and Cardiovascular Surgery, 2015
    Co-Authors: Meriem Mostefakara, Elie Fadel, Emre Belli, Damien Bonnet, Lucile Houyel
    Abstract:

    Abstract Objective The study objective was to analyze the anatomy of the ventricular septal defect found in various phenotypes of outflow tract defects. Methods We reviewed 277 heart specimens with isolated outlet ventricular septal defect without subpulmonary stenosis (isolated outlet ventricular septal defect, 19); Tetralogy of Fallot (71); Tetralogy of Fallot with pulmonary atresia (51); common arterial trunk (54); double outlet right ventricle (65) with subaortic, doubly committed, or subpulmonary ventricular septal defect; and interrupted aortic arch type B (17). Special attention was paid to the rims of the ventricular septal defect viewed from the right ventricular side and the relationships between the tricuspid and aortic valves. Results The ventricular septal defect was always located in the outlet of the right ventricle, between the 2 limbs of the septal band. There was a fibrous continuity between the tricuspid and aortic valves in 74% of specimens with isolated outlet ventricular septal defect, 66% of specimens with Tetralogy of Fallot, 39% of specimens with Tetralogy of Fallot with pulmonary atresia, 4.6% of specimens with double outlet right ventricle, 1.8% of specimens with common arterial trunk, and zero of specimens with interrupted aortic arch type B ( P Conclusions The ventricular septal defect in outflow tract defects is always an outlet ventricular septal defect, cradled between the 2 limbs of the septal band. However, there are some differences regarding the posteroinferior and superior rims of the ventricular septal defect. These differences suggest an anatomic continuum from the isolated outlet ventricular septal defect to the interrupted aortic arch type B rather than distinct physiologic phenotypes, related to various degrees of abnormal rotation of the outflow tract during heart development: minimal in isolated outlet ventricular septal defect; incomplete in Tetralogy of Fallot, Tetralogy of Fallot with pulmonary atresia, and double outlet right ventricle; absent in common arterial trunk; and excessive in interrupted aortic arch type B.

Fabio Bartoli - One of the best experts on this subject based on the ideXlab platform.

  • Case Report A Rare Case of Neonatal Complicated Appendicitis in a Child with Patau’s Syndrome
    2016
    Co-Authors: Valentina Pastore, Fabio Bartoli
    Abstract:

    License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Neonatal appendicitis is a rare condition with high mortality rate. Signs and symptoms are often nonspecific, imaging modalities are not always diagnostic, and preoperative diagnosis is difficult with subsequent delay and complications. Its pathophysiology may be different from appendicitis in older children and comorbidities can be found. We report a case of a female neonate with Patau’s syndrome, intestinal malrotation, and Fallot Tetralogy in whom perforated appendix, probably occurring during fetal period due to vascular insufficiency, was found at laparotomy. 1

  • A Rare Case of Neonatal Complicated Appendicitis in a Child with Patau's Syndrome.
    Case reports in pediatrics, 2014
    Co-Authors: Valentina Pastore, Fabio Bartoli
    Abstract:

    Neonatal appendicitis is a rare condition with high mortality rate. Signs and symptoms are often nonspecific, imaging modalities are not always diagnostic, and preoperative diagnosis is difficult with subsequent delay and complications. Its pathophysiology may be different from appendicitis in older children and comorbidities can be found. We report a case of a female neonate with Patau's syndrome, intestinal malrotation, and Fallot Tetralogy in whom perforated appendix, probably occurring during fetal period due to vascular insufficiency, was found at laparotomy.

  • A Rare Case of Neonatal Complicated Appendicitis in a Child with Patau’s Syndrome
    Hindawi Limited, 2014
    Co-Authors: Valentina Pastore, Fabio Bartoli
    Abstract:

    Neonatal appendicitis is a rare condition with high mortality rate. Signs and symptoms are often nonspecific, imaging modalities are not always diagnostic, and preoperative diagnosis is difficult with subsequent delay and complications. Its pathophysiology may be different from appendicitis in older children and comorbidities can be found. We report a case of a female neonate with Patau’s syndrome, intestinal malrotation, and Fallot Tetralogy in whom perforated appendix, probably occurring during fetal period due to vascular insufficiency, was found at laparotomy