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Joubert syndrome presenting as unilateral dysplastic kidney, hypotonia, and respiratory problem
Joint Authors
Maliki, Majid
Shoaran, Maryam
Nemati, Masud
Source
Saudi Journal of Kidney Diseases and Transplantation
Issue
Vol. 23, Issue 2 (30 Apr. 2012), pp.325-329, 5 p.
Publisher
Saudi Center for Organ Transplantation
Publication Date
2012-04-30
Country of Publication
Saudi Arabia
No. of Pages
5
Main Subjects
Topics
- Children
- Kidneys
- Diseases
- Neurological disorders
- Complications(Medicine)
- Myotonia
- Diagnosis
- Joubert syndrome
- Renal dysplasia
Abstract EN
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 O2 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.
American Psychological Association (APA)
Maliki, Majid& Nemati, Masud& Shoaran, Maryam. 2012. Joubert syndrome presenting as unilateral dysplastic kidney, hypotonia, and respiratory problem. Saudi Journal of Kidney Diseases and Transplantation،Vol. 23, no. 2, pp.325-329.
https://search.emarefa.net/detail/BIM-292847
Modern Language Association (MLA)
Maliki, Majid…[et al.]. Joubert syndrome presenting as unilateral dysplastic kidney, hypotonia, and respiratory problem. Saudi Journal of Kidney Diseases and Transplantation Vol. 23, no. 2 (Apr. 2012), pp.325-329.
https://search.emarefa.net/detail/BIM-292847
American Medical Association (AMA)
Maliki, Majid& Nemati, Masud& Shoaran, Maryam. Joubert syndrome presenting as unilateral dysplastic kidney, hypotonia, and respiratory problem. Saudi Journal of Kidney Diseases and Transplantation. 2012. Vol. 23, no. 2, pp.325-329.
https://search.emarefa.net/detail/BIM-292847
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 328-329
Record ID
BIM-292847