Hennekam lymphangiectasia syndrome

Oct-Dec 2011 - Just released PubMed

G. Lakshminarayana, A. Mathew, R. Rajesh, G. Kurien, and V. N. Unni

Abstract

Key Words:  Facial and dental anomalies, renal lymphangiectasia, Hennekam lymphangiectasia syndrome

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.

Introduction

Hennekam Lymphangiectasia syndrome is a rare disorder characterized by presence 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. This syndrome thought to be due to developmental disorder of the lymphatics. The synonym for this disease is multiple congenital anomaly/mental retardation (MCA/MR) syndrome.

Complete Full Text

NIH - Indian Journal of Nephrology