Hennekam lymphangiectasia syndrome
Publication Type:Journal Article
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
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.
cited By (since 1996)0
Cite this Research Publication
Related Research Publications
- Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome
- Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.
- An Indian family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation
- Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features
- Oncogenic osteomalacia from nasal cavity giant cell tumor