نتایج جستجو برای: congenital eye malformation
تعداد نتایج: 282070 فیلتر نتایج به سال:
Dandy-Walker malformation is a rare congenital malformation, characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation 4th ventricle and enlargement posterior fossa. Postnatal hydrocephalus develops in approximately 70-90% patients. The relationship with postaxial polydactyl has been defined as possible autosomal recessive syndrome (OMIM 220220). Here, we present an in...
Gestational diabetes mellitus (GDM) is one of the leading causes of fetal malformations. However, few models have been developed to study the underlying mechanisms of GDM-induced fetal eye malformation. In this study, a high concentration of glucose (0.2 mmol per egg) was injected into the air sac of chick embryos on embryo development day (EDD) 1 to develop a hyperglycemia model. Results showe...
A three generation family with Rieger eye malformation sequence is described. No other abnormalities were present apart from the eye malformation. Linkage to EGF and D4S193 localised in 4q25 was excluded and this indicates that Rieger eye malformation is genetically different from typical Rieger syndrome with teeth and umbilical anomalies.
Abstract Background Congenital pulmonary airway malformation (CPAM) with partial anomalous venous connection presenting as episodic retrosternal chest pain on exertion in an adult has not been described. Case presentation A 21-year-old female, non-smoker, presented a 4-year history of sharp, episodic, pains brought exercise. contrast-enhanced computed tomography (CT) scan showed grossly overinf...
Embryogenesis of a congenital nasolacrimal duct (NLD) cyst is attributed to the failure of the Hasner membrane of the NLD system to cannulate. Prenatal diagnosis of congenital NLD cysts supports the argument for a developmental error, with a postnatal prevalence of 6%. The role of a genetic basis for this malformation has never been ascribed. We present a set of monozygotic twins with bilateral...
Congenital/fetal malformations are structural, functional, and/or biochemical molecular defects present at birth. Prevalence of congenital fetal anomalies in developing countries 2 to 3% newborns and about 94% severe birth defects. Acrania is a lethal malformation characterized by partial or complete absence flat bones cranial vault. Another anomaly, omphalocele, ventral defect the umbilical ri...
The use of sequential segmental analysis for describing congenital heart malformations was the method of assessment used in a prospective necropsy study covering Jutland, a well defined geographical and demographic area of Denmark. The study group was 1,154 children of whom 261 (22.6%) had a congenital heart malformation. The most common malformations were ductus arteriosus and ventricular sept...
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