نتایج جستجو برای: rib polydactyly syndrome
تعداد نتایج: 631580 فیلتر نتایج به سال:
Meckel-Gruber syndrome is a monogenic congenital disorder characterized by occipital encephalocele, polydactyly, and polycystic kidneys. This incompatible with life. We report case diagnosed on fetal ultrasound at gestational age of 22 SA 6 days, presenting the clinical triad syndrome. A medical termination pregnancy was indicated. From this rare case, through review literature, we will discuss...
Ciliary chondrodysplasias represent a heterogenous group of rare, nearly exclusively autosomal recessively inherited developmental conditions. While the skeletal phenotype, mainly affecting limbs, ribs and sometimes the craniofacial skeleton, is predominant, extraskeletal disease affecting the kidneys, liver, heart, eyes and other organs and tissues is observed inconsistently. Significant letha...
The short-rib polydactyly (SRP) syndromes are a heterogeneous group of perinatal lethal skeletal disorders with polydactyly and multisystem organ abnormalities. Homozygosity by descent mapping in a consanguineous SRP family identified a genomic region that contained DYNC2H1, a cytoplasmic dynein involved in retrograde transport in the cilium. Affected individuals in the family were homozygous f...
Objective: To describe a case of Bardet-Biedl syndrome involving renal failure and retinal dystrophy. Case Presentation and Intervention: A 50-year-old female patient presented to the emergency service with uremic symptoms and metabolic acidosis. Polydactyly, retinitis pigmentosa, obesity, strabismus, nistagmus and renal failure were found. Because she had end-stage renal failure, hemodialysis ...
Short-rib polydactyly syndromes (SRPS) arise from mutations in genes involved in retrograde intraflagellar transport (IFT) and basal body homeostasis, which are critical for cilia assembly and function. Recently, mutations in WDR34 or WDR60 (candidate dynein intermediate chains) were identified in SRPS. We have identified and characterized Tctex1d2, which associates with Wdr34, Wdr60 and other ...
Meckel Gruber Syndrome is a rare and lethal autosomal recessive congenital anomaly syndrome, characterized by triad of : occipital encephalocele Postaxial polydactyly, bilateral dysplastic cystic kidneys other occasional features. Diagnosis can be made on ultrasonography with atleast two the major Here we present pregnant women complicated meckel gruber syndrome. We relayed findings MRI ,pregan...
A 24-year-old man presented with a history of palpitation and haemoptysis. He had short stature, cardiac anomalies physical deformities, including polydactyly, clubbing, cataracts cyanosis. Echocardiography was performed, revealing both atrial ventricular septal defects, along severe pulmonary hypertension Eisenmenger syndrome.
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