نتایج جستجو برای: nager syndrome

تعداد نتایج: 621954  

2015
R. Bozatlıoğlu A. P. Münevveroğlu

Nager syndrome is a rare syndrome resulting from developmental abnormalities of the first and second branchial arches. Nager syndrome is rare and mostly sporadic. The main clinical features consist of craniofacial, limb, and musculoskeletal morphogenesis. These findings included malar hypoplasia, maxillomandibular hypoplasia, micrognathia, downslanting palpebral fissures, cleft palate, ear anom...

Mehrnoush Mousaviagdas Nikzad Shahidi, Shahin Abdollahi Fakhim

Introduction: Nager syndrome is a malformation resulting from problems in the development of the first and second branchial arches and limb buds. The cause of the abnormal development of the pharyngeal arches in Nager syndrome is unknown. It is also unclear why affected individuals have bone abnormalities in their arms and legs. Nager syndrome is thought to have an autosomal recessive inherita...

Journal: :Indian journal of ophthalmology 2013
Rohit Malik Sumit Goel Saurabh Aggarwal

Nager syndrome, also called preaxial acrofacial dysostosis, comprises two groups of defects involving the limbs and craniofacial region, respectively. This syndrome is rare and only 70 cases have been reported in the literature. The exact cause of this syndrome is unknown, but there is indication that it is genetically based. Ocular manifestations of this syndrome include widely separated downw...

2012
Shahin Abdollahi Fakhim Nikzad Shahidi Mehrnoush Mousaviagdas

INTRODUCTION Nager syndrome is a malformation resulting from problems in the development of the first and second branchial arches and limb buds. The cause of the abnormal development of the pharyngeal arches in Nager syndrome is unknown. It is also unclear why affected individuals have bone abnormalities in their arms and legs. Nager syndrome is thought to have an autosomal recessive inheritanc...

Journal: :iranian journal of otorhinolaryngology 0
shahin abdollahi fakhim department of otorhinolaryngology, tabriz university of medical sciences, tabriz, iran nikzad shahidi department of otorhinolaryngology, tabriz university of medical sciences, tabriz, iran mehrnoush mousaviagdas department of otorhinolaryngology, tabriz university of medical sciences, tabriz, iran

introduction: nager syndrome is a malformation resulting from problems in the development of the first and second branchial arches and limb buds. the cause of the abnormal development of the pharyngeal arches in nager syndrome is unknown. it is also unclear why affected individuals have bone abnormalities in their arms and legs. nager syndrome is thought to have an autosomal recessive inheritan...

Journal: :Saudi medical journal 2006
Mahdi Kahrom Mohammad R Abbaszadegan Hadi Kahrom Rahim Vakili

Nager syndrome is a rare condition associated with craniofacial malformations such as, micrognathia, zygomatic hypoplasia, external ear malformations, and preaxial limb deformities. This report features a case of Nager syndrome occurring in a one-year-old boy showing microretrognathia, thumb hypoplasia, brachydactyly, hexadactyly, and hypertrophic cardiomyopathy, characteristics not usually enc...

Journal: :Journal of medical genetics 1985
E Thompson R Cadbury M Baraitser

A male infant is described with mandibulofacial dysostosis and absent thumbs, consistent with the Nager acrofacial dysostosis syndrome. In addition, the tetralogy of Fallot was present. Major congenital heart malformations occur rarely in this syndrome.

2016
Felipe Marques Jessica Tenney Ivan Duran Jorge Martin Lisette Nevarez Robert Pogue Deborah Krakow Daniel H Cohn Bing Li

The acrofacial dysostoses (AFD) are a genetically heterogeneous group of inherited disorders with craniofacial and limb abnormalities. Rodriguez syndrome is a severe, usually perinatal lethal AFD, characterized by severe retrognathia, oligodactyly and lower limb abnormalities. Rodriguez syndrome has been proposed to be a severe form of Nager syndrome, a non-lethal AFD that results from mutation...

Journal: :BMJ case reports 2015
M Hari Kumar M Siva Kumar Vishalakshi Siva Kumar Sabitha Hari Kumar

To cite: Kumar MH, Kumar MS, Kumar VS, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2015-212949 DESCRIPTION A 10-year-old girl presented to the oral medicine department, with restricted mouth opening since childhood. Her family history revealed that she was the third child born of a consanguineous marriage. She was born after an unremarkable pregnancy, ...

Journal: :Pediatrics & Neonatology 2012

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