دختر 30 ماهه مبتلا به سندرم ژوبرت با تأخیر شدید رشد و نفرونوفتاز کلیه

عنوان انگليسی

A 30 months old girl affecting from Joubert syndrome presenting with severe developmental delay and renal nephronophtasis

خلاصه انگلیسی

oubert syndrome is a rare autosomal recessive disorder impairing ciliary function leading to a variety of manifestations in different organ systems including central nervous system, eyes, liver, kidney and skeleton. It presents with hypotonia, neonatal abnormal respiratory patterns and abnormal eye movements such as nystagmus and oculomotor apraxia. The condition is either pure or associated with other disorders (JSRD). Hereby, we report a case of a 30 month old girl with Joubert syndrome and renal nephronophtasis who first was found to have abnormally large echogenic kidneys prenatally and later in 6th month having a Joubert syndrome related disorder was established.

Document Downloads