نتایج جستجو برای: dysmorphology
تعداد نتایج: 421 فیلتر نتایج به سال:
FOXL2 mutations cause gonadal dysgenesis or premature ovarian failure (POF) in women, as well as eyelid/forehead dysmorphology in both sexes (the 'blepharophimosis-ptosis-epicanthus inversus syndrome', BPES). Here we report that mice lacking Foxl2 recapitulate relevant features of human BPES: males and females are small and show distinctive craniofacial morphology with upper eyelids absent. Fur...
The Neu-Laxova syndrome is a rare autosomal recessive condition associated with neuro-ectodermal abnormalities and other patterns of severe malformations leading to prenatal or early postnatal lethality. Association with kyphosis is an extremely rare finding. A fetus born from a 25-year-old gravida at 30 weeks gestation was diagnosed with Dandy Walker syndrome with severe intrauterine growth re...
Abstract Diabetic kidney disease (DKD), one of the most common chronic microvascular complications in diabetes mellitus (DM), is leading cause (CKD) and end-stage renal (ESRD) worldwide. The proteinuria DKD tightly related to dysmorphology podocytes including hypertrophy, foot process widening along with its effacement, ultimately loss podocytes. maintenance a normal slit diaphragm, actin cytos...
Noonan syndrome is a rare genetic disease with multisystemic manifestations, typically diagnosed in infancy and childhood. This case report presents 53-year-old woman no significant medical history who presented shortness of breath was subsequently syndrome. The patient exhibited characteristic facial dysmorphology, including narrow face, low set ears, pectus excavatum. Physical examination rev...
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