منابع مشابه
Joubert syndrome.
Joubert syndrome is an autosomal recessive condition in which there is a variable combination of central nervous system defects with a distinctive congenital retinal dystrophy, ocular motor abnormalities, and respiratory abnormalities in early infancy. The retinal dystrophy has been previously classified as a variant of Leber's congenital amaurosis. We report electrophysiologic and eye movement...
متن کاملSpeech difficulties in Joubert syndrome
Introduction: "Joubert syndrome" was first introduced in1969. This syndrome is a rare genetic disease with autosomal dominantpattern. Hypotonia, ataxia and motor delay of the disease known as clinical manifestations. In the few reports of this syndrome, mostly functional and structural components studied and radiographic images such as speech and language developmental delay symptoms has been l...
متن کاملMRI in Joubert Syndrome
The patient was an 8-month-old boy who was the product of a full-term and uncomplicated pregnancy. He had a remarkable family history with the presence of the same clinical course in a cousin, who was not clearly diagnosed as having Joubert Syndrome. He had apnea episodes, truncal ataxia, pendular nystagmus and mentalmotor developmental delay. He had a normal vestibuloocular reflex based on hea...
متن کاملPrenatal diagnosis of Joubert syndrome
Introduction: Joubert syndrome (JS) is a rare autosomal recessive inherited disease belonging to ciliopathy with the causative mutation of genes. Except for X-linked inheritance, the high recurrence rate of a family is about 25%. After birth, it may cause a series of neurological symptoms, even with retina, kidney, liver, and other organ abnormalities, which is defined as Joubert syndrome and r...
متن کاملJoubert Syndrome Associated with Seizures.
Received: 23.10.2015; Accepted: 30.03.2017 Fig. 1: MRI Brain (T2 Axial) showing typical molar tooth sign Fig. 2: MRI Brain (T2 Axial) showing bat wing appearance of fourth ventricle dysplasia of pontine and medullary structures such as the basis pontis, reticular formation, inferior olivary, dorsa l co lumn and so l i tary t rac t nuclei. Moreover, typical findings are represented by the lack o...
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ژورنال
عنوان ژورنال: Clinical Kidney Journal
سال: 2020
ISSN: 2048-8513
DOI: 10.1093/ckj/sfaa007