Publication Type : Journal Article
Publisher : Indian Journal of Nephrology
Source : Indian Journal of Nephrology, Volume 21, Number 4, p.273-275 (2011)
Keywords : adult, article, birth defect, case report, echography, face dysmorphia, female, Hennekam lymphangiectasia syndrome, human, hypertelorism, hypoalbuminemia, immunoglobulin deficiency, India, kidney disease, lymphangiectasis, lymphocytopenia, mental deficiency, multidetector computed tomography, pregnancy outcome, rare disease, syndrome delineation, tooth malformation
Campus : Kochi
School : School of Medicine
Department : Nephrology
Year : 2011
Abstract : Hennekam lymphangiectasia syndrome is a rare disorder comprising of intestinal and renal lymphangiectasia, dysmorphic facial appearance and mental retardation. The facial features include hypertelorism with a wide, flat nasal bridge, epicanthic folds, small mouth and small ears. We describe a case of a multigravida with bad obstetric history and characteristic facial and dental anomalies and bilateral renal lymphangiectasia. To our knowledge this is the first case of Hennekam lymphangiectasia syndrome with anodontia to be reported from India.
Cite this Research Publication : G. Lakshminarayana, Mathew, A., Rajesh, R., Kurien, G., and Unni, V. N., “Hennekam lymphangiectasia syndrome”, Indian Journal of Nephrology, vol. 21, pp. 273-275, 2011.