CORNELIA DE LANGE SYNDROME AND REPRESENTATION OF AN INFANT PATIENT

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GHAFARI JAVAD; GHAFARI V.; FARIBORZI M.R.

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Journal Paper

Paper Information

Journal: Journal of Mazandaran University of Medical Sciences Year:2007 | Volume:17 | Issue:60 Page(s): 116-121

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Information Journal Paper

Title

CORNELIA DE LANGE SYNDROME AND REPRESENTATION OF AN INFANT PATIENT

Author(s)

GHAFARI JAVAD | GHAFARI V. | FARIBORZI M.R. | Issue Writer Certificate

Keywords

SYNDROMEQ3

CORNELIA DE LANGEQ3

GROWTH RETARDATIONQ3

Abstract

Cornelia De Lange is a rare congenital SYNDROME with multiple anomalies including; Facial dysmorphism, hirsutism, height, weight and head circumflex retardations, cardiac defects, gastrointestinal and renal defects and extremity anomaly. Prevalence of this SYNDROME is 1 to 30000 or 1 to 50000. The diagnosis of this SYNDROME is based on clinical evidence. Genetic foundation is known to have two forms including dominant autosomal and is X linked. Often mutations are NIPBL and SMC1L1. The aim of this paper is to show a case of CORNELIA DE LANGE SYNDROME.

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APA: Copy

GHAFARI, JAVAD, GHAFARI, V., & FARIBORZI, M.R.. (2007). CORNELIA DE LANGE SYNDROME AND REPRESENTATION OF AN INFANT PATIENT. JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES, 17(60), 116-121. SID. https://sid.ir/paper/46157/en

Vancouver: Copy

GHAFARI JAVAD, GHAFARI V., FARIBORZI M.R.. CORNELIA DE LANGE SYNDROME AND REPRESENTATION OF AN INFANT PATIENT. JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2007;17(60):116-121. Available from: https://sid.ir/paper/46157/en

IEEE: Copy

JAVAD GHAFARI, V. GHAFARI, and M.R. FARIBORZI, “CORNELIA DE LANGE SYNDROME AND REPRESENTATION OF AN INFANT PATIENT,” JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES, vol. 17, no. 60, pp. 116–121, 2007, [Online]. Available: https://sid.ir/paper/46157/en

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