Familial congenital glaucoma and epilepsy: a case series.
نویسندگان
چکیده
منابع مشابه
Glaucoma Surgery in Pregnancy: A Case Series and Literature Review
AbstractGlaucoma management in pregnant patients is a real challenge, especially when the glaucoma is not controlled with medications. We report the results of 6 incisional glaucoma surgeries for the management of medically uncontrolled glaucoma patients during pregnancy. This retrospective, case series was conducted on the 6 eyes of 3pregnant patients with uncontrolled glaucoma using maximum t...
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conclusions congenital hyperinsulinism can have different inheritance pattern. autosomal recessive inheritance is more common but less frequently autosomal dominant inheritance can be seen. it appears that mutations in abcc8 gene can show both autosomal recessive and autosomal dominant inheritance of the disease. pcr followed by sanger sequencing proved to be an efficient method for mutation de...
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The phenomenon of congenitally missing teeth has been described with different names: hypodontia, oligodontia, anodontia, congenitally missing teeth and dental agenesis. The present paper reports familial hypodontia, involving two siblings from a single family. Case I reported the absence of 18, 12, 22 and 31 teeth whereas case II reported the absence of 31 and 41. On the evaluation of the two ...
متن کاملglaucoma surgery in pregnancy: a case series and literature review
abstract glaucoma management in pregnant patients is a real challenge, especially when the glaucoma is not controlled with medications. we report the results of 6 incisional glaucoma surgeries for the management of medically uncontrolled glaucoma patients during pregnancy. this retrospective, case series was conducted on the 6 eyes of 3pregnant patients with uncontrolled glaucoma using maximum ...
متن کاملA Case Series: Congenital Hyperinsulinism
INTRODUCTION Congenital hyperinsulinism is a rare inherited disease caused by mutations in genes responsible for β-cell's function in glucose hemostasis leading to profound and recurrent hypoglycemia. The incidence of the disease is about 1 in 50000 newborns. Mutations in at least 8 genes have been reported to cause congenital hyperinsulinism. Mutations in ABCC8 gene are the most common cause o...
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ژورنال
عنوان ژورنال: Nigerian Journal of Paediatrics
سال: 2012
ISSN: 0302-4660
DOI: 10.4314/njp.v39i4.10