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Karimia A.,Shiraz University of Medical Sciences | Peiraviand F.,Islamic Azad University at Kazeroon | Amirghofrana A.A.,Shiraz University of Medical Sciences | Amirghofrana A.A.,DeNA | Kariminejad A.,Kariminejad Najmabadi Pathology and Genetic Center
Interactive Cardiovascular and Thoracic Surgery | Year: 2010

Absent pulmonary valve (APV) is a relatively rare congenital heart disease, and is mostly associated with tetralogy of Fallot phenotype or ventricular septal defect. APV with intact interventricular septum (IVS) is even less common with case reports or very small series in the literature. Congenital aortic regurgitation with a rudimentary non-coronary cusp is also by itself a rare congenital anomaly and to our knowledge this is the first report of the combination of APV, intact IVS, abnormal aortic valve and ascending aortic aneurysm. The clinical course, possible etiologies and management are discussed. © 2010 Published by European Association for Cardio-Thoracic Surgery. Source


Kariminejad A.,Kariminejad Najmabadi Pathology and Genetic Center | Ghaderi-Sohi S.,Kariminejad Najmabadi Pathology and Genetic Center | Kariminejad M.H.,Kariminejad Najmabadi Pathology and Genetic Center | Lachman R.,Cedars Sinai Medical Center
Fetal and Pediatric Pathology | Year: 2012

We report on a male infant born at 38 weeks of gestation with hydrocephalus, right anophthalmia, left microphthalmia, cleft palate, midline cleft of lip, and microphallus. Autopsy showed pulmonary bronchial lymphangiectasia, hepatic periportal fibrosis, adrenal agenesis, ventricular septal defect, aortic stenosis, and undescended testes. The radiographic findings include short limbs and mild shortness of ribs. Karyotype with high-resolution banding was normal (46,XY). The combination of anomalies in this case could suggest a ciliopathy and may represent a new entity similar to that described by Cideciyan et al. [1]. © 2012 Informa Healthcare USA, Inc. Source


Chassaing N.,Toulouse University Hospital Center | Chassaing N.,University Paul Sabatier | Ragge N.,Wessex Regional Genetics Service | Ragge N.,Oxford Brookes University | And 6 more authors.
Clinical Genetics | Year: 2013

PDAC syndrome [Pulmonary hypoplasia/agenesis, Diaphragmatic hernia/eventration, Anophthalmia/microphthalmia (A/M) and Cardiac Defect] is a condition associated with recessive mutations in the STRA6 gene in some of these patients. Recently, cases with isolated anophthalmia have been associated with STRA6 mutations. To determine the minimal findings associated with STRA6 mutations, we performed mutation analysis of the STRA6 gene in 28 cases with anophthalmia. In 7 of the cases the anophthalmia was isolated, in 14 cases it was associated with one of the major features included in PDAC and 7 had other abnormalities. Mutations were identified in two individuals: one with bilateral anophthalmia and some features included in PDAC, who was a compound heterozygote for a missense mutation and a large intragenic deletion, and the second case with all the major features of PDAC and who had a homozygous splicing mutation. This study suggests that STRA6 mutations are more likely to be identified in individuals with A/M and other abnormalities included in the PDAC spectrum, rather than in isolated A/M cases. © 2012 John Wiley & Sons A/S. Source


Kariminejad R.,Kariminejad Najmabadi Pathology and Genetic Center | Kariminejad M.H.,Kariminejad Najmabadi Pathology and Genetic Center
Genetics in the Third Millennium | Year: 2015

Total or partial absence or excess of the sex chromosomes produces different karyotypes and phenotypical abnormalities. Upon retrospective analysis of the results of 163444 cytogenetic tests that were performed during 28 years (1987-2015) in this center, different types of sex chromosomal aberrations and the clinical phenotypes are delineated in this article. Moreover, the clinical course and the percentage of the classic form along with their variants are presented. © 2015 Iranian Neurogenetics Society. All rights reserved. Source


Kretz R.,Pediatric Research Center | Bozorgmehr B.,Kariminejad Najmabadi Pathology and Genetic Center | Kariminejad M.H.,Kariminejad Najmabadi Pathology and Genetic Center | Rohrbach M.,Pediatric Research Center | And 6 more authors.
Journal of Inherited Metabolic Disease | Year: 2011

Pyrroline-5-carboxylate reductase 1 (PYCR1) catalyzes the last step in proline synthesis. Deficiency of PYCR1, caused by a defect in PYCR1, was recently described in patients with cutis laxa, intrauterine growth retardation, developmental dysplasia of the hips and mental retardation. In this paper, we describe additional six patients (ages ranging from 4 months to 55 years) from four Iranian families with clinical manifestations of a wrinkly skin disorder. All patients have distinct facial features comprising triangular face, loss of adipose tissue and thin pointed nose. Additional features are short stature, wrinkling over dorsum of hand and feet, visible veins over the chest and hyperextensible joints. Three of the patients from a large consanguineous family do not have mental retardation, while the remaining three patients from three unrelated families have mental and developmental delay. Mutation analysis revealed the presence of disease-causing variants in PYCR1, including a novel deletion of the entire PYCR1 gene in one family, and in each of the other patients the homozygous missense mutations c.616G > A (p.Gly206Arg), c.89T > A (p.Ile30Lys) and c.572G > A (p.Gly191Glu) respectively, the latter two of which are novel. Light- and electron microscopy investigations of skin biopsies showed smaller and fragmented elastic fibres, abnormal morphology of the mitochondria and their cristae, and slightly abnormal collagen fibril diameters with irregular outline and variable size. In conclusion, this study adds information on the natural course of PYCR1 deficiency and sheds light on the pathophysiology of this disorder. However, the exact pathogenesis of this new disorder and the role of proline in the development of the clinical phenotype remain to be fully explained. © 2011 SSIEM and Springer. Source

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