نتایج جستجو برای: robinow syndrome
تعداد نتایج: 621936 فیلتر نتایج به سال:
Congenital posterior urethral diverticulum (PUD) is a rare congenital anomaly. Proper diagnosis and treatment in such cases still is challenging. More common are acquired diverticula of the posterior urethra, which mostly follow surgical repair of imperforate anus. We report a case of a large, congenital PUD which was diagnosed in a 3-month old boy with very rare genetic disorder Robinow syndro...
background robinow syndrome is a rare congenital disorder with phenotypically heterogeneous abnormalities. two modes of inheritances are known for this syndrome namely autosomal recessive and autosomal dominant. case report we describe here an eighteen-month-old child who had mesomelic short stature, abnormal facial features, clinodactyly, micropenis and vertebral changes which were further sup...
Robinow syndrome is a genetically heterogeneous disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features and for which both autosomal-recessive and autosomal-dominant inheritance patterns have been described. Causative variants in the non-canonical signaling gene WNT5A underlie a subset of autosomal-dominant Robinow syndrome (DRS) cases, but most ...
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