Hennekam lymphangiectasia syndrome

Bezwada Srinivasa Rao, Matta Sree Vani, Boga Sree Kanth

Abstract


Hennekam lymphangiectasia syndrome is a rare autosomal recessive condition. Onset is usually in childhood. The prevalence is unknown but less than 50 cases have been reported in the literature. Incidence is about 1 in 100000 and occurs in all ethnic groups. The syndrome is characterized by the association of lymphedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism. Here is a case presented with distension of abdomen with ascites, bilateral pedal oedema, macrocephaly, left half facial edema, left half hypertrophied tongue, dental anomalies, acanthosis nigricans, acrochordons and syndactyly consistent with a diagnosis of Hennekam syndrome. The diagnosis of Hennekam is suspected on the basis of clinical phenotypic features. This is one of the very few cases reported from India.


Keywords


Hennekam syndrome, Lymphangiectasia, Autosomal recessive, Facial dysmorphism

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References


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