نتایج جستجو برای: syndromic cleft

تعداد نتایج: 19425  

2016
Xiaoran Ma Bradley McPherson Lian Ma

OBJECTIVES Cleft lip and/or palate is a common congenital craniofacial malformation found worldwide. A frequently associated disorder is conductive hearing loss, and this disorder has been thoroughly investigated in children with non-syndromic cleft lip and/or palate (NSCL/P). However, analysis of auditory processing function is rarely reported for this population, although this issue should no...

2014
Sanjeev Datana Ashish Bhalla Prasanna Kumar Supriya Kumar Roy Sanjay Londhe

PURPOSE The patients with cleft lip and palate have a higher risk of cervical vertebrae anomalies than do patients in general population. The aim of present study was to determine the prevalence of various upper cervical spine anomalies in different type of clefts. PROCEDURES Lateral cephalograms of 128 patients (66 males, 62 females) with cleft lip and palate, and 125 (60 males, 65 females) ...

2017
Kisito Nagalo Isso Ouédraogo Jean-Martin Laberge Louise Caouette-Laberge Jean Turgeon

BACKGROUND Orofacial clefts are usually isolated cases but can be associated with other congenital malformations that are either recognised or unrecognised syndromes. The reported prevalence and pattern of such associated malformations, however, vary among studies. OBJECTIVES To assess the frequencies and aetiologies of congenital malformations and associated medical conditions in children wi...

2015
Aurora Ibarra-Arce Martín García-Álvarez Daniel Cortés-González Gabriela Ortiz de Zarate-Alarcón Laura Flores-Peña Sandra Sánchez-Camacho Silvia Arenas-Díaz Mirza Romero-Valdovinos Angélica Olivo-Díaz

Cleft lip with or without cleft palate (CL/P) is one of the most common birth defects; it is a multifactorial disease affecting > 1/1,000 live births in Europe, and its etiology is largely unknown, although it is very likely genetic and environmental factors contribute to this malformation. Orofacial development is a complex process involving many genes and signaling pathways. Mutations in the ...

2017
Yanqin Yu Xianbo Zuo Miao He Jinping Gao Yuchuan Fu Chuanqi Qin Liuyan Meng Wenjun Wang Yaling Song Yong Cheng Fusheng Zhou Gang Chen Xiaodong Zheng Xinhuan Wang Bo Liang Zhengwei Zhu Xiazhou Fu Yujun Sheng Jiebing Hao Zhongyin Liu Hansong Yan Elisabeth Mangold Ingo Ruczinski Jianjun Liu Mary L. Marazita Kerstin U. Ludwig Terri H. Beaty Xuejun Zhang Liangdan Sun Zhuan Bian

Non-syndromic cleft lip with palate (NSCLP) is the most serious sub-phenotype of non-syndromic orofacial clefts (NSOFC), which are the most common craniofacial birth defects in humans. Here we conduct a GWAS of NSCLP with multiple independent replications, totalling 7,404 NSOFC cases and 16,059 controls from several ethnicities, to identify new NSCLP risk loci, and explore the genetic heterogen...

2011
Jyotsna Murthy

OBJECTIVE Palatal fistula is a significant complication following cleft palate repair. The guidelines of management of the palatal fistula is dependent on the type of cleft, site of fistula, condition of surrounding tissue and associated problem. We studied the management and outcome of 194 cleft palate fistula in our institute. DESIGN We present the descriptive hospital-based study of manage...

Journal: :Genes 2023

Non-syndromic cleft lip with or without palate (NSCL/P) is a prevalent birth defect that affects 1/500–1/1400 live births globally. The genetic basis of NSCL/P intricate and involves both environmental factors. In the past few years, various inheritance models have been proposed to elucidate underlying mechanisms NSCL/P. These range from simple monogenic more complex polygenic inheritance. Here...

Journal: :Brazilian journal of otorhinolaryngology 2010
Daniella Reis Barbosa Martelli Kaliany Wanessa da Cruz Letízia Monteiro de Barros Marise Fernandes Silveira Mário Sérgio Oliveira Swerts Hercílio Martelli Júnior

UNLABELLED Cleft lip and palate (CL/P) are the most common congenital craniofacial anomalies. AIM To evaluate environmental risk factors for non-syndromic CL/P in a reference care center in Minas Gerais. MATERIALS AND METHODS we carried out a case-controlled study, assessing 100 children with clefts and 100 children without clinical alterations. The analysis dimensions (age, skin color, gen...

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