title: Autosomal or X-linked recessive syndrome of congenital lymphedema, hypoparathyroidism, nephropathy, prolapsing mitral valve, and brachytelephalangy.
abstract: Two brothers were found to have an unusual congenital syndrome of lymphedema, pulmonary lymphagiectasia, hypoparthyroidism, hereditary nephropathy, prolapsing mitral valve, and other somatic abnormalities.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D007011:Hypoparathyroidism / Q000235:genetics*; D007674:Kidney Diseases / Q000235:genetics*; D008209:Lymphedema / Q000235:genetics*; D008297:Male; D008945:Mitral Valve Prolapse / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome