Ipek M.S.,Maternity and Childrens Hospital |
Ozmen C.A.,Dicle University
Medicine (United States) | Year: 2016
Skeletal dysplasias are a heterogeneous group of conditions associated with various abnormalities of the skeleton. Some of them are perinatally lethal and can be diagnosed at birth. Lethality is usually due to thoracic underdevelopment and lung hypoplasia. A correct diagnosis and typing of the skeletal disorder is essential for the prognosis as is genetic counseling of the family. A retrospective review of 12 cases of clinico-radiologic diagnosis of skeletal dysplasia, leading to thoracic insufficiency, was conducted. We aimed to make differential diagnosis with special emphasis on radiological findings, and to emphasize the importance of parental counseling. © 2016 Wolters Kluwer Health, Inc. All rights reserved.
Faden M.,King Saud Medical Complex |
Al-Zahrani F.,King Faisal Specialist Hospital And Research Center |
Arafah D.,Maternity and Childrens Hospital |
Alkuraya F.S.,King Faisal Specialist Hospital And Research Center |
And 2 more authors.
American Journal of Medical Genetics, Part A | Year: 2010
Desbuquois dysplasia is an autosomal recessive dysplasia characterized by severe growth restriction and distinct hand and proximal femur appearance in addition to cognitive impairment. The critical interval for this disease has been mapped to 17q25.3 using homozygosity mapping. We have identified a newborn with classical features of the disease whose parents are first cousins. Assuming genetic homogeneity of this disorder, we were able to narrow the critical interval to a region that only contained 10 annotated genes by combining the results of our homozygosity mapping with those of others. Serial sequencing of the genes contained within the interval revealed a 5 bp duplication in Calcium-Activated Nucleotidase 1 gene (CANT1), consistent with the very recent report by Huber et al. [Huber et al. (2009); Am J Hum Genet 85:706-710]. This report cements the role of CANT1 in the causation of this dysplasia and demonstrates the high value of even single cases in the setting of genetically homogeneous disorders when homozygosity mapping is used. © 2010 Wiley-Liss, Inc.
Kothari M.,Maternity and Childrens Hospital
Journal of Pediatric Surgery Case Reports | Year: 2015
A case of a four and a half years old girl with total colon and terminal ileal duplication with a normally situated anus, vestibular fistula, double bladder and urethra with a unique feature of loop duplication of terminal ileum and part of the colon is reported. A proposal is made for a new simplified classification. © 2015 The Author.
Acikgoz A.,Gazi State Hospital |
Gokce E.,Maternity and Childrens Hospital |
Asci R.,Ondokuz Mayis University |
Buyukalpelli R.,Ondokuz Mayis University |
And 2 more authors.
International Journal of Impotence Research | Year: 2011
Peyronie's disease is postulated to be initiated by repetitive minor traumas to the fully or partially erect penis. We investigated Peyronie's disease prospectively in cases treated for penile fracture (PF) within the last 20 years. Medical records of 63 cases treated for PFs were reviewed. Subjects were required to self-assess their current penile morphologies and sexual functions. Penile nodules and Peyronie's plaques were also evaluated with physical examination, ultrasonography and magnetic resonance imaging (MRI), and penile curvatures with auto-photography, and sexual function with international erectile function index (IIEF). Of the 63 cases (mean age 37 years), 46 who had mean follow-up of 63 months were re-evaluated. The mean IIEF-5 score was 23.23.1. Painful erections (n5), penile nodules (n5) and also penile curvatures 20° (n2) were investigated. No Peyronie's plaque was palpated in any of the cases. Ultrasound and MRI showed fibrotic nodules of 5 mm in diameter, which extended into the subtunical area in the rupture site in 54% of the cases, although any thickening and Peyronie's plaque were not found in the tunica albuginea and intracavernosal septum of the cases examined. In PF patients treated surgically, the erectile function and penile morphology were preserved. In our cases PFs did not induce the development of Peyronie's disease. © 2011 Macmillan Publishers Limited All rights reserved.
Habeb A.M.,Maternity and Childrens Hospital |
Flanagan S.E.,University of Exeter |
Deeb A.,Mafraq Hospital |
Al-Alwan I.,King Saud bin Abdulaziz University for Health Sciences |
And 6 more authors.
Archives of Disease in Childhood | Year: 2012
Objective: Mutations in the KCNJ11 and ABCC8 genes that encode the pancreatic K ATP channel are the commonest cause of permanent neonatal diabetes mellitus (PNDM). The authors aimed to define the genetic causes of PNDM in a large cohort of Arab patients and compare them with a British cohort tested in the same laboratory. Design: Retrospective observational study. Setting: International genetics centre. Patients: Arab and British subjects with PNDM who were referred for genetic testing over the same period. Intervention: Comparison of genotypes and phenotypes between the two cohorts. Main outcome measures: The aetiology and phenotype of PNDM in an Arab compared to a British cohort. Results: 88 Arab and 77 British probands were referred between 2006 and 2011, inclusive. Consanguinity was higher among Arabs (63.6% vs 10.4%) and a higher percentage had a genetic diagnosis compared to the British cohort (63.6% vs 41.6%). Recessive EIF2AK3 gene mutations were the commonest cause of PNDM in the Arab cohort (22.7%) followed by INS (12.5%), and KCNJ11 and GCK (5.7% each), whereas K ATP channel mutations were the commonest cause (29.9%) in the British cohort. In 37.5% of Arab patients PNDM was part of a genetic syndrome compared to 7.8% of the British cohort. Conclusion: PNDM in the Arab population has a different genetic spectrum compared to British patients where KATP channel mutations are the commonest cause, similar to other European populations. In Arabs, PNDM is more likely to be part of a recessively inherited syndrome, possibly due to the higher rate of consanguinity.