American Journal of Medical Genetics · 1995 · 40 citations · 7 references
MedicineNephrologyPediatricsCraniofacial DevelopmentCraniofacial GeneticsRenal PathologyCongenital Cranial AnomaliesCongenital Craniofacial AnomaliesCongenital Renal AnomaliesCraniofacial AnomaliesCraniosynostosis GeneticsLymphatic MalformationsAutosomal Recessive Craniofacial DisordersAutosomal Recessive CraniosynostosisAutosomal Recessive InheritanceFacial AnomaliesFacial LymphedemaIntestinal LymphangiectasiaMalformation EtiologyMolecular Basis Of Inheritance
Hennekam syndrome is a rare autosomal recessive syndrome which was described for the first time in 1989. Here, we present a girl with intestinal lymphangiectasia, severe lymphedema of limbs, seizures, mild mental retardation, and facial anomalies consistent with the diagnosis of Hennekam syndrome. In addition, she had an ectopic kidney and craniosynostosis of the coronal suture, 2 manifestations not previously reported in this syndrome. While the molecular basis of Hennekam syndrome remains, as yet, unknown, this report illustrates its variable clinical expression.
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