Document Detail

Joubert syndrome presenting as unilateral dysplastic kidney, hypotonia, and respiratory problem.
MedLine Citation:
PMID:  22382228     Owner:  NLM     Status:  In-Data-Review    
An 8-month-old girl with a history of asphyxia and respiratory distress immediately after birth was hospitalized at her fourth month of age with the diagnosis of kidney infection and it was revealed that she had a unilateral multicystic dysplastic kidney. In recent admission, she presented to emergency room with fever, hyperpnea, and apnea. In appearance, she was a hypotonic girl with broad forehead, hypertelorism, depressed nasal bridge and bitemporal regions, rapid vertical and horizontal nystagmus, and open mouth with salivation. In spite of normal physical growth, she had delayed developmental milestones. Blood gas O 2 saturation dropped after she received phenobarbital. Her urinary and blood tests were normal; however, her cranial magnetic resonance imaging (MRI) revealed vermis agenesis and molar tooth sign. These physical and para-clinical findings suggested Joubert syndrome.
Majid Malaki; Masood Nemati; Maryam Shoaran
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia     Volume:  23     ISSN:  1319-2442     ISO Abbreviation:  Saudi J Kidney Dis Transpl     Publication Date:  2012 Mar 
Date Detail:
Created Date:  2012-03-02     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9436968     Medline TA:  Saudi J Kidney Dis Transpl     Country:  Saudi Arabia    
Other Details:
Languages:  eng     Pagination:  325-9     Citation Subset:  IM    
Department of Pediatric Nephrology, Tabriz University of Medical Sciences, Tabriz, Iran.
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