نتایج جستجو برای: skeletal anomalies
تعداد نتایج: 142028 فیلتر نتایج به سال:
Background The Kabuki syndrome (KS) is a rare genetic, hereditary, autosomic dominant, multiple anomaly syndrome, with an estimated incidence around 1-2/ 100 000 worldwide. Not all of the affected individuals have the same malformations. Five major criteria delineate KS: postnatal short stature, skeletal anomalies, moderate mental retardation, dermatoglyphic anomalies, characteristic facial dys...
Congenital longitudinal deficiency of the fibula (CLDF) is the most common congenital defect involving the long bones. There have been many different classifications developed for fibula deficiency. Achterman and Kalamchi's classification is most commonly used and will be described. Our case was complied with type II. Other anomalies includes cardiac anomalies, thrombocytopenia absent-radius (T...
BACKGROUND Turner syndrome is characterised by a 45,X karyotype and a variety of skeletal, lymphoedemic, and gonadal anomalies. Genes involved in the Turner phenotype are thought to be X/Y homologous with the X genes escaping X inactivation. Haploinsufficiency of the SHOX gene has been reported to cause the short stature seen in Turner syndrome patients. More recently, mutations of this gene ha...
Abstract Background: Phenytoin is one of the oldest anti epileptic drugs it may result in fetal abnormalities if taken during pregnancy. This study was designed to determine teratogenic effects of phenytoin on the development of skeleton and neural tube defects in mouse fetuses.. Materials and methods: Forty small experimental pregnant mice (NMRI Type) were divided in to three experimental...
Introduction: Nevoid BCC syndrome (Gorline syndrome) is a familial disorder with autosomal dominant inheritense. This syndrome is combination of multiple BCC that occurs at an early age, characteristic faces with: frontal bossing, broad nasal bridge and hypertelorism, jaw cysts, palmoplanter pitting, macrocephaly, skeletal and spinal anomalies include bifid ribes, cervical rib and kyphoscoliosi...
The purpose of this study was to determine the prevalence of dentofacial anomalies in 12 to 14 years old students in Tehran.The sample consisted of 500 students. 250 of them were females and 250 were males. The evaluation of saggital skeletal relationships revealed tha 16% of samples had normal occlusion, 48% of them had CI I malocclusion, 15,6% had CI II Div I malocclusion, 12% of them had CI ...
In this study, skeletal anomalies such as vertebral centra deformation, lordosis (ventral curvature), and consecutive repetition of kyphosis were examined in specimens Barbus xanthos (Güçlü, Kalaycı, Küçük & Turan, 2020) collected from the Dalaman River, southwestern Turkey. Abnormalities column observed both thoracic caudal vertebrae. Cases showed varying degrees severity. Specimens with m...
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