JOUBERT SYNDROME IN AN EIGHT MONTH INFANT

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MALEKI MAJID; ASGHARI KALEIBAR Y.; GHAEMI MIR REZA

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Journal Paper

Paper Information

Journal: Medical Journal of Tabriz University of Medical Sciences Year:2010 | Volume:31 | Issue:4 Page(s): 90-94

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Information Journal Paper

Title

JOUBERT SYNDROME IN AN EIGHT MONTH INFANT

Author(s)

MALEKI MAJID | ASGHARI KALEIBAR Y. | GHAEMI MIR REZA | Issue Writer Certificate

Keywords

JOUBERT SYNDROMEQ2

VERMIS AGENESISQ3

RENAL DYSPHASIC DISEASEQ3

HYPOTONIAQ3

Abstract

JOUBERT SYNDROME is a rare disorder manifested by neuralgic, ophthalmic, renal, respiratory and radiological signs and Symptoms. Here we report an 8 months infant girl with history of neonatal respiratory distress. HYPOTONIA and (retinal dystrophy). She hospitalized in 4th mo for urinary fact infection and revealed that she had a unilateral multicystic and dysplastic kidney. It had broad forehead, hyperthelorism, depressed nasal bridge and bitemporal depression bilaterally, physical examination revealed; Rapid nystagmus in vertical and horizontal wards, wide open mouth with hyper salivation. In spite of normal physical growth she had delayed developmental milestones. Cranial MRI revealed VERMIS AGENESIS and molar tooth sign.

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APA: Copy

MALEKI, MAJID, ASGHARI KALEIBAR, Y., & GHAEMI, MIR REZA. (2010). JOUBERT SYNDROME IN AN EIGHT MONTH INFANT. MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES, 31(4), 90-94. SID. https://sid.ir/paper/46781/en

Vancouver: Copy

MALEKI MAJID, ASGHARI KALEIBAR Y., GHAEMI MIR REZA. JOUBERT SYNDROME IN AN EIGHT MONTH INFANT. MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2010;31(4):90-94. Available from: https://sid.ir/paper/46781/en

IEEE: Copy

MAJID MALEKI, Y. ASGHARI KALEIBAR, and MIR REZA GHAEMI, “JOUBERT SYNDROME IN AN EIGHT MONTH INFANT,” MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES, vol. 31, no. 4, pp. 90–94, 2010, [Online]. Available: https://sid.ir/paper/46781/en

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