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Further delineation of Hennekam syndrome

We report four children from four inbred Arab families with varying manifestations of Hennekam syndrome and additional features that have not been previously reported. These include abnormalities of the middle ear, anomalous pulmonary venous drainage, interrupted inferior vena cava, polysplenia, crossed renal ectopia, median position of the liver and multiple cavernous haemangiomas. In addition, in one case lymphoedema was absent and oedema due to hypoproteinaemia appeared at 6 years of age. Since anomalies of the veins and the consequent developmental abnormalities of the lymphatics might lead to alterations in the fluid balance of the embryo, we hypothesize that altered fluid dynamics due to defective vascular and lymphatic development might disrupt critical events in craniofacial morphogenesis resulting in Hennekam syndrome.