WIDE SPECTRUM OF CLINICAL FEATURES IN A CASE OF ARTHROGRYPOSIS-RENAL TUBULAR DYSFUNCTION-CHOLESTASIS SYNDROME (CASE REPORT)

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NILI F.; AKBARI ASBAGH PARVIN; OLOUMI YAZDI Z.; HAJIZADEH NILOUFAR; NAYERI F.; AMINI E.; BAHREHMAND SH.

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Journal: ARCHIVES OF IRANIAN MEDICINE Year:2008 | Volume:11 | Issue:5 Page(s): 569-572

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Title

WIDE SPECTRUM OF CLINICAL FEATURES IN A CASE OF ARTHROGRYPOSIS-RENAL TUBULAR DYSFUNCTION-CHOLESTASIS SYNDROME (CASE REPORT)

Author(s)

Keywords

ARTHROGRYPOSIS

CHOLESTASIS

RENAL TUBULAR ACIDOSIS

SYNDROME

Abstract

ARTHROGRYPOSIS-renal tubular dysfunction-cholestasis SYNDROME is a rare multisystem disorder, originally described in 1973 and to date only 62 patients have been reported. Herein, we reported on a neonate with ARTHROGRYPOSIS-renal tubular dysfunction-cholestasis SYNDROME presenting very early after birth. Recurrent febrile illnesses, failure to thrive, ichthyosis, hypothyroidism, and bilateral hearing loss were among other associated findings. Blood films revealed abnormally large platelets. Polyhydramnios, hybrid type of RENAL TUBULAR ACIDOSIS and hypothyroidism found in this case are not usually seen. We propose to expand the acronym of this SYNDROME and name it as ARTHROGRYPOSIS-renal dysfunction-cholestasis-hypothyroidism-ichthyosis-deafness or dysmorphic features SYNDROME.

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APA: Copy

NILI, F., AKBARI ASBAGH, PARVIN, OLOUMI YAZDI, Z., HAJIZADEH, NILOUFAR, NAYERI, F., AMINI, E., & BAHREHMAND, SH.. (2008). WIDE SPECTRUM OF CLINICAL FEATURES IN A CASE OF ARTHROGRYPOSIS-RENAL TUBULAR DYSFUNCTION-CHOLESTASIS SYNDROME (CASE REPORT). ARCHIVES OF IRANIAN MEDICINE, 11(5), 569-572. SID. https://sid.ir/paper/280338/en

Vancouver: Copy

NILI F., AKBARI ASBAGH PARVIN, OLOUMI YAZDI Z., HAJIZADEH NILOUFAR, NAYERI F., AMINI E., BAHREHMAND SH.. WIDE SPECTRUM OF CLINICAL FEATURES IN A CASE OF ARTHROGRYPOSIS-RENAL TUBULAR DYSFUNCTION-CHOLESTASIS SYNDROME (CASE REPORT). ARCHIVES OF IRANIAN MEDICINE[Internet]. 2008;11(5):569-572. Available from: https://sid.ir/paper/280338/en

IEEE: Copy

F. NILI, PARVIN AKBARI ASBAGH, Z. OLOUMI YAZDI, NILOUFAR HAJIZADEH, F. NAYERI, E. AMINI, and SH. BAHREHMAND, “WIDE SPECTRUM OF CLINICAL FEATURES IN A CASE OF ARTHROGRYPOSIS-RENAL TUBULAR DYSFUNCTION-CHOLESTASIS SYNDROME (CASE REPORT),” ARCHIVES OF IRANIAN MEDICINE, vol. 11, no. 5, pp. 569–572, 2008, [Online]. Available: https://sid.ir/paper/280338/en

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