Aetiology and epidemiology of primary lymphoedema: Review;Ätiologie und epidemiologie des primären lymphödems: Literaturreview

Phlebologie

Volumn 35, Issue 1, 2006, Pages 3-10

  Kroll A ^a   Neuhuttler S ^a   Brenner, Erich ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

Lymphoedema

Indexed keywords

TRANSCRIPTION FACTOR FOXC2;

ANGIOOSTEOHYPERTROPHY SYNDROME; CHORIORETINOPATHY; COLLAGEN DISEASE; FACIOGENITAL DYSPLASIA; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPOTRICHOSIS; INCIDENCE; LYMPHEDEMA; MEIGE DISEASE; MICROCEPHALY; MILROY DISEASE; PSEUDOHYPOPARATHYROIDISM; PTOSIS; REVIEW; SOTOS SYNDROME; TELANGIECTASIA; YELLOW NAIL SYNDROME;

EID: 33847341198     PISSN: 0939978X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1622124     Document Type: Review

References (152)

1. Aagenaes O. Hereditary recurrent cholestasis with lymphoedema - two new families. Acta Paediatr Scand 1974; 63: 465-71.
2. Aagenaes O. Hereditary cholestasis with lymphoedema (Aagenaes syndrome, cholestasis-lymphoedema syndrome). New cases and follow-up from infancy to adult age. Scand J Gastroenterol 1998; 33: 335-45.
3. Aagenaes O, Sigstad H, Bjorn-Hansen R. Lymphoedema in hereditary recurrent cholestasis from birth. Arch Dis Child 1970; 45: 690-5.
4. Aagenaes O, van der Hagen CB, Refsum S. Hereditary recurrent intrahepatic cholestasis from birth. Arch Dis Child 1968; 43: 646-57.
5. Aarskog D. A familial syndrome of short stature associated with facial dysplasia and genital anomalies. J Pediatr 1970; 77: 856-61.
6. Ahlbom BE, Dahl N, Zetterqvist P et al. Noonan syndrome with cafe-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus. Clin Genet 1995; 48: 85-9.
7. Al-Gazali LI, Hertecant J, Ahmed R et al. Further delineation of Hennekam syndrome. Clin Dysmorphol 2003; 12: 227-32.
8. Angle B, Holgado S, Burton BK et al. Microcephaly, lymphedema, and chorioretinal dysplasia: report of two additional cases. Am J Med Genet 1994; 53: 99-101.
9. Armulik A, Abramsson A, Betsholtz C. Endothelial/pericyte interactions. Circ Res 2005; 97: 512-23.
10. Avasthey P, Roy SB. Primary pulmonary hypertension, cerebrovascular malformation, and lymphoedema feet in a family. Br Heart J 1968; 30: 769-75.
11. Badejo OA. Familial occurrence of unilateral giant breasts in Nigeria: a possible new genetic entity. J Med Genet 1984; 21: 114-6.
12. Bader-Meunier B, Tchernia G, Mielot F et al. Occurrence of myeloproliferative disorder in patients with Noonan syndrome. J Pediatr 1997; 130: 885-9.
13. Berlin R, Hedensio B, Lilja B et al. Osteopoikilosis - a clinical and genetic study. Acta Med Scand 1967; 181: 305-14.
14. Berry C, Cree J, Mann T. Aarskog's syndrome. Arch Dis Child 1980; 55: 706-10.
15. Bertola DR, Pereira AC, de Oliveira PS et al. Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation. Am J Med Genet A 2004; 130: 378-83.
16. Bloom D. Hereditary lymphedema (Nonne-Milroy-Meige). Report of a family with hereditary lymphedema associated with ptosis of the eyelids in several generations. New York J Med 1941; 41: 856-63.
17. Brady AF, Jamieson CR, van der Burgt I et al.. Further delineation of the critical region for noonan syndrome on the long arm of chromosome 12. Eur J Hum Genet 1997; 5: 336-7.
18. Brice G, Mansour S, Bell R et al. Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24. J Med Genet 2002; 39: 478-83.
19. Bull LN, Roche E, Song EJ et al. Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q. Am J Hum Genet 2000; 67: 994-9.
20. Buschke A, Ollendorff H. Ein Fall von Dermatofibrosis lenticularis disseminata. Derm Wochenschr 1928; 86: 257-62.
21. Cederberg A, Gronning LM, Ahren B et al. FOXC2 is a winged helix gene that counteracts obesity, hypertriglyceridemia, and diet-induced insulin resistance. Cell 2001; 106: 563-73.
22. Celermajer JM, Bowdler JD, Cohen DH. Pulmonary stenosis in patients with the Turner phenotype in the male. Am J Dis Child 1968; 116: 351-8.
23. Chabas A, Coll MJ, Aparicio M et al. Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings. J Inherit Metab Dis 1994; 17: 724-31.
24. Choong K, Freedman MH, Chitayat D et al. Juvenile myelomonocytic leukemia and Noonan syndrome. J Pediatr Hematol Oncol 1999; 21: 523-7.
25. Chynn KY. Congenital spinal extradural cyst in two siblings. Am J Roentgenol Radium Ther Nucl Med 1967; 101: 204-15.
26. Cohen MM Jr. Klippel-Trenaunay syndrome. Am J Med Genet 2000; 93: 171-5.
27. Colli R, Colombo P, Russo F et al. Malformazione di Arnold Chiari tipo 1 in soggetto con sindrome di Noonan. Pediatr Med Chir 2001; 23: 61-4.
28. Corbett CR, Dale RF, Coltart DJ et al. Congenital heart disease in patients with primary lymphedemas. Lymphology 1982; 15: 85-90.
29. Crowe CA, Dickerman LH. A genetic association between microcephaly and lymphedema. Am J Med Genet 1986; 24: 131-5.
30. Cumming WA, Ohlsson A, Ali A. Campomelia, cervical lymphocele, polycystic dysplasia, short gut, polysplenia. Am J Med Genet 1986; 25: 783-90.
31. Dahlberg PJ, Borer WZ, Newcomer KL et al. Autosomal or X-linked recessive syndrome of congenital lymphedema, hypoparathyroidism, nephropathy, prolapsing mitral valve, and brachytelephalangy. Am J Med Genet 1983; 16: 99-104.
32. Dale RF. Primary lymphoedema when found with distichiasis is of the type defined as bilateral hyperplasia by lymphography. J Med Genet 1987; 24: 170-1.
33. De Haan M, vd Kamp JJ, Briet E et al. Noonan syndrome: partial factor XI deficiency. Am J Med Genet 1988; 29: 277-82.
34. Deutsches Institut für Medizinische Dokumentation und Information. ICD-10 - Internationale Klassifikation der Krankheiten, 10. Revision. 2006. www.dimdi.de/static/de/klassi/diagnosen/icd10/index.htm (last access: 2005-10-18)
35. Diekmann L, Pfeiffer RA, Hilgenberg F et al. Familiäre Kardiomyopathie mit Pterygium coli. Münch Med Wochenschr 1967; 109: 2638-45.
36. Disteche CM, Casanova M, Saal H et al. Small deletions of the short arm of the Y chromosome in 46,XY females. Proc Natl Acad Sci USA 1986; 83: 7841-4.
37. Doffinger R, Smahi A, Bessia C et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet 2001; 27: 277-85.
38. Dumont DJ, Jussila L, Taipale J et al. Cardiovascular failure in mouse embryos deficient in VEGF receptor-3. Science 1998; 282(5390): 946-9.
39. Elsawi MM, Pryor P, Klufio G et al. Genital tract function in men with Noonan syndrome. J Med Genet 1994; 31: 468-70.
40. Emberger JM, Navarro M, Dejean M et al. Surdimutite, lymphoedeme des membres inferieurs et anomalies hematologiques (leucose aigue, cytopenies) a transmission autosomique dominante. J Genet Hum 1979; 27: 237-45.
41. Erickson RP, Dagenais SL, Caulder MS et al. Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations. J Med Genet 2001; 38: 761-6.
42. Esterly JR. Congenital hereditary lymphoedema. J Med Genet 1965; 39: 93-8.
43. Evans AL, Brice G, ChildA et al. Mapping of primary congenital lymphedema to the 5q35.3 region. Am J Hum Genet 1999; 64: 547.
44. Evans DG, Lonsdale RN, Patton MA. Cutaneous lymphangioma and amegakaryocytic thrombocytopenia in Noonan syndrome. Clin Genet 1991; 39: 228-32.
45. Falls HF, Kertesz ED. A new syndrome combining pterygium colli with developmental anomalies of the eyelids and lymphatics of the lower extremities. Trans Am Ophthalmol Soc 1964; 62: 248-75.
46. Fang J, Dagenais SL, Erickson RP et al. Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. Am J Hum Genet 2000; 67: 1382-8.
47. Feingold M, Bartoshesky L. Microcephaly, lymphedema, and chorioretinal dysplasia: a distinct syndrome? Am J Med Genet 1992; 43: 1030-1.
48. Fernandez I, Tsukahara M, Mito H et al. Congenital heart defects in Aarskog syndrome. Am J Med Genet 1994; 50: 318-22.
49. Ferrell RE. Research perspectives in inherited lymphatic disease. Ann NY Acad Sci 2002; 979: 39-51.
50. Ferrell RE, Levinson KL, Esman JH et al. Hereditary lymphedema: evidence for linkage and genetic heterogeneity. Hum. Mol. Genet. 1998; 7: 2073-8.
51. Figueroa AA, Pruzansky S, Rollnick BR. Meige disease (familial lymphedema praecox) and cleft palate: report of a family and review of the literature. Cleft Palate J 1983; 20: 151-7.
52. Flintoff WF, Bahuau M, Lyonnet S et al. No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families. Am J Med Genet 1993; 46: 700-5.
53. Földi M. Das vernachlässigte Gefäßsystem - 4,5 Millionen Deutsche leiden an Lymphödemen. MMW Fortschritte der Medizin 2004; 146: 23-4.
54. Földi M, Kubik S. Lehrbuch der Lymphologie für Mediziner und Physiotherapeuten. Stuttgart: Gustav Fischer 1999.
55. Fryns JP, Smeets E, van den Berghe H. On the nosology of the "primary true microcephaly, chorioretinal dysplasia, lymphoedema" association. Clin Genet 1995; 48: 131-3.
56. Fukuda M, Horibe K, Miyajima Y et al. Spontaneous remission of juvenile chronic myelomonocytic leukemia in an infant with Noonan syndrome. J Pediatr Hematol Oncol 1997; 19: 177-9.
57. Gabrielli O, Catassi C, Carlucci A et al. Intestinal lymphangiectasia, lymphedema, mental retardation, and typical face: confirmation of the Hennekam syndrome. Am J Med Genet 1991; 40: 244-7.
58. German J, Morillo-Cucci G, Simpson JL et al. Generalized dysmorphia of a similar type in two unrelated babies. Birth Defects Orig Artic Ser 1975; 11: 34-8.
59. Giro MG, Duvic M, Smith LT et al. Buschke-Ollendorff syndrome associated with elevated elastin production by affected skin fibroblasts in culture. J Invest Dermatol 1992; 99: 129-37.
60. Glade C, van Steensel MA, Steijlen PM. Hypotrichosis, lymphedema of the legs and acral telangiectasias - new syndrome? Eur J Dermatol 2001; 11: 515-7.
61. Govaert P, Leroy JG, Pauwels R et al. Perinatal manifestations of maternal yellow nail syndrome. Pediatrics 1992; 89: 1016-8.
62. Hellemans J, Preobrazhenska O, Willaert A et al. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet 2004; 36: 1213-8.
63. Hennekam RC, Geerdink RA, Hamel BC et al. Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation. Am J Med Genet 1989; 34: 593-600.
64. Herbert FA, Bowen PA. Hereditary late-onset lymphedema with pleural effusion and laryngeal edema. Arch Intern Med 1983; 143: 913-5.
65. Herpertz U. Die häufigsten Beinödeme - Differenzierung zwischen Phlebödem, Lymphödem und Lipödem. Phlebologie 2001; 30: 48-52.
66. Herpertz U. Ödeme und Lymphdrainage. Stuttgart: Schattauer 2003.
67. Holberg CJ, Erickson RP, Bernas MJ et al. Segregation analyses and a genome-wide linkage search confirm genetic heterogeneity and suggest oligogenic inheritance in some Milroy congenital primary lymphedema families. Am J Med Genet 2001; 98: 303-12.
68. Holder-Espinasse M, Winter RM. Type 1 Arnold-Chiari malformation and Noonan syndrome. A new diagnostic feature? Clin Dysmorphol 2003; 12: 275.
69. Hong SE, Shugart YY, Huang DT et al. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet 2000; 26: 93-6.
70. Hourihane JO, Bennett CP, Chaudhuri R et al. A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema. Neuropediatrics 1993; 24: 43-6.
71. Hurwitz PA, Pinals DJ. Pleural effusion in chronic hereditary lymphedema (Nonne, Milroy, Meige's disease). Report of two cases. Radiology 1964; 82: 246-8.
72. Institute for Scientific Information. Web of Science®. http://portal.isiknowledge.com/portal.cgi?DestApp=WOS&Func=Frame (last access: 2005-10-18)
73. Ion A, Crosby AH, Kremer H et al. Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6. J Med Genet 2000; 37: 884-6.
74. Irrthum A, Devriendt K, Chitayat D et al. Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis- lymphedema-telangiectasia. Am J Hum Genet 2003; 72: 1470-8.
75. Jamieson CR, van der Burgt I, Brady AF et al. Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Nat Genet 1994; 8: 357-60.
76. Johnson SM, Kincannon JM, Horn TD. Lymphedema-distichiasis syndrome: report of a case and review. Arch Dermatol 1999; 135: 347-8.
77. Kaestner KH, Bleckmann SC, Monaghan AP et al. Clustered arrangement of winged helix genes fkh-6 and MFH-1: possible implications for mesoderm development. Development 1996; 122: 1751-8.
78. Kaipainen A, Korhonen J, Mustonen T et al. Expression of the fms-like tyrosine kinase 4 gene becomes restricted to lymphatic endothelium during development. Proc Natl Acad Sci USA 1995; 92: 3566-70.
79. Kajii T, Tsukahara M. Congenital lymphedema in two siblings. Jinrui Idengaku Zasshi 1985; 30: 31-4.
80. Kajii T, Tsukahara M. Autosomal recessive lymphedema? Jinrui Idengaku Zasshi 1986; 31: 57.
81. Kärkkäinen MJ, Ferrell RE, Lawrence EC et al. Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema. Nat Genet 2000; 25: 153-9.
82. Kärkkäinen MJ, Saaristo A, Jussila L et al. A model for gene therapy of human hereditary lymphedema. Proc Natl Acad Sci 2001; 98: 12677-82.
83. Kitchens CS, Alexander JA. Partial deficiency of coagulation factor XI as a newly recognized feature of Noonan syndrome. J Pediatr 1983; 102: 224-7.
84. Kolin T, Johns KJ, Wadlington WB et al. Hereditary lymphedema and distichiasis. Arch Ophthalmol 1991; 109: 980-1.
85. Kondoh T, Ishii E, Aoki Y et al. Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report. Eur J Pediatr 2003; 162: 548-9.
86. Koretzky ED, Moller JH, Korns ME et al. Congenital pulmonary stenosis resulting from dysplasia of valve. Circulation 1969; 40: 43-53.
87. Kozma C, Scribanu N, Gersh E. The microcephaly-lymphoedema syndrome: report of an additional family. Clin Dysmorphol 1996; 5: 49-54.
88. Lee NB, Kelly L, Sharland M. Ocular manifestations of Noonan syndrome. Eye 1992; 6: 328-34.
89. Legius E, Schollen E, Matthijs G et al. Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family. Eur J Hum Genet 1998; 6: 32-7.
90. Leichtman LG. Are cardio-facio-cutaneous syndrome and Noonan syndrome distinct? A case of CFC offspring of a mother with Noonan syndrome. Clin Dysmorphol 1996; 5: 61-4.
91. Lemire EG. Noonan syndrome or new autosomal dominant condition with coarctation of the aorta, hypertrophic cardiomyopathy, and minor anomalies. Am J Med Genet 2002; 113: 286-90.
92. Leung AK. Dominantly inherited syndrome of microcephaly and congenital lymphedema. Clin Genet 1985; 27: 611-2.
93. Lewin SO, Hughes HE. German syndrome in sibs. Am J Med Genet 1987; 26: 385-90.
94. Limwongse C, Wyszynski RE, Dickerman LH et al. Microcephaly-lymphedema- chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance. Am J Med Genet 1999; 86: 215-8.
95. Linde LM, Turner SW, Sparkes RS. Pulmonary valvular dysplasia. A cardiofacial syndrome. Br Heart J 1973; 35: 301-4.
96. Lorenzetti ME, Fryns JP. Retinitis pigmentosa in a young man with Noonan syndrome: further evidence that Noonan syndrome (NS) and the cardio-facio-cutaneous syndrome (CFC) are variable manifestations of the same entity? Am J Med Genet 1996; 65: 97-9.
97. Mangion J, Rahman N, Mansour S et al. A gene for lymphedema-distichiasis maps to 16q24.3. Am J Hum Genet 1999; 65: 427-32.
98. McKusick-Nathans Institute for Genetic Medicine - Johns Hopkins University (Baltimore MD), National Center for Biotechnology Information (Bethesda MD). Online Mendelian Inheritance in Man, OMIM™. www.ncbi.nhn.nih.gov/omim/ (last access: 2005-10-18).
99. Meige H. Dystrophie oedemateuse hereditaire. Presse Med 1898; 6: 341-3.
100. Mendez HM, Opitz JM. Noonan syndrome: a review. Am J Med Genet 1985; 21: 493-506.
101. Milroy WF. An undescribed variety of hereditary oedema. NY Med J 1892; 56: 505-8.
102. Milroy WF. Chronic hereditary edema: Milroy's disease. JAMA 1928; 91: 1172.
103. Ming JE, McDonald-McGinn DM, Markowitz RI et al. Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: expanding the phenotype of Cumming syndrome. Am J Med Genet 1997; 73: 419-24.
104. Miura N, Wanaka A, Tohyama M et al. MFH-1, a new member of the fork head domain family, is expressed in developing mesenchyme. FEBS Lett 1993; 326: 171-6.
105. Morris AA, Sequeira JS, Malone M et al. Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome). J Med Genet 1997; 34: 852-3.
106. Mucke J, Hoepffner W, Scheerschmidt G et al. Early onset lymphoedema, recessive form - a new form of genetic lymphoedema syndrome. Eur J Pediatr 1986; 145: 195-8.
107. Musante L, Kehl HG, Majewski F et al. Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. Eur J Hum Genet 2003; 11: 201-6.
108. National Center for Biotechnology Information. PubMed. www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed (last access: 2005-10-18).
109. Neri G, Zollino M. More on the Noonan-CFC controversy. Am J Med Genet 1996; 65: 100.
110. Neuhüttler S. Beitrag zur Epidemiologie des Lymphödems. In: Department für Anatomie, Histologie und Embryologie. Innsbruck: Medizinische Universität Innsbruck 2005.
111. Nonne M. Vier Fälle von Elephantiasis congenita hereditaria. Virchows Arch Pathol Anat 1891; 125: 189-96.
112. ÖBIG. Versorgungssituation und Versorgungsbedarf von Lymphödempatienten: Endbericht. In. Wien: Österreichisches Bundesinstitut für Gesundheitswesen 1999.
113. Opitz JM. On congenital lymphedema. Am J Med Genet 1986; 24: 127-9.
114. Opitz JM, Weaver DW, Reynolds JF Jr. The syndromes of Sotos and Weaver: reports and review. Am J Med Genet 1998; 79: 294-304.
115. Orrico A, Galli L, Cavaliere ML et al. Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. Eur J Hum Genet 2004; 12: 16-23.
116. Pap Z, Biro T, Szabo L et al. Syndrome of lymphoedema and distichiasis. Hum Genet 1980; 53: 309-10.
117. Pasteris NG, Cadle A, Logie LJ et al. Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. Cell 1994; 79: 669-78.
118. Peiris A, Ball MJ. Chiari (type 1) malformation and syringomyelia in a patient with Noonan's syndrome. J Neurol Neurosurg Psychiatry 1982; 45: 753-4.
119. Perez del Rio MJ, Fernandez-Toral J, Madrigal B et al. Two new cases of Cumming syndrome confirming autosomal recessive inheritance. Am J Med Genet 1999; 82: 340-3.
120. Petrova TV, Karpanen T, Norrmen C et al. Defective valves and abnormal mural cell recruitment underlie lymphatic vascular failure in lymphedema distichiasis. Nat Med 2004; 10: 974-81.
121. Porteous ME, Goudie DR. Aarskog syndrome. J Med Genet 1991; 28: 44-7.
122. Ridderstrale M, Carlsson E, Klannemark M et al. FOXC2 mRNA Expression and a 5′ untranslated region polymorphism of the gene are associated with insulin resistance. Diabetes 2002; 51: 3554-60.
123. Robin NH, Sellinger B, McDonald-McGinn D et al. Classical Noonan syndrome is not associated with deletions of 22q11. Am J Med Genet 1995; 56: 94-6.
124. Robinow M, Johnson GF, Verhagen AD. Distichiasis-lymphedema. A hereditary syndrome of multiple congenital defects. Am J Dis Child 1970; 119: 343-7.
125. Rosen FS, Smith DH, Earle R Jr et al. The etiology of hypoproteinemia in a patient with congenital chylous ascites. Pediatrics 1962; 30: 696-706.
126. Samman PD, White WF. The "Yellow Nail" Syndrome. Br J Dermatol 1964; 76: 153-7.
127. Scarcella A, De Lucia A, Pasquariello MB et al. Early death in two sisters with Hennekam syndrome. Am J Med Genet 2000; 93: 181-3.
128. Schollen E, Matthijs G, Gewillig M et al. PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning. Eur J Hum Genet 2003; 11: 85-8.
129. Schwartz JF, O'Brien MS, Hoffman JC Jr. Hereditary spinal arachnoid cysts, distichiasis, and lymphedema. Ann Neurol 1980; 7: 340-3.
130. Schwarz U. Die Häufigkeit des primären Lymphödems. Eine epidemiologische Studie an über 1000 Probanden. Vasomed aktuell 1990; 1: 29-34.
131. Shah N, Rodriguez M, Louis DS et al. Feeding difficulties and foregut dysmotility in Noonan's syndrome. Arch Dis Child 1999; 81: 28-31.
132. SharlandM, Burch M, McKenna WM et al. A clinical study of Noonan syndrome. Arch Dis Child 1992; 67: 178-83.
133. Sharland M, Patton M, Chittolie A et al. Coagulation factor abnormalities in Noonan syndrome. J Med Genet 1990; 27: 646.
134. Sharland M, Patton MA, Talbot S et al. Coagulation-factor deficiencies and abnormal bleeding in Noonan's syndrome. Lancet 1992; 339(8784): 19-21.
135. Sharp HL, Krivit W. Hereditary lymphedema and obstructive jaundice. J Pediatr 1971; 78: 491-6.
136. Sleeman JP, Krishnan J, Kirkin V et al. Markers for the lymphatic endothelium: in search of the holy grail? Microsc Res Tech 2001; 55: 61-9.
137. Smeltzer DM, Stickler GB, Schirger A. Primary lymphedema in children and adolescents: a follow-up study and review. Pediatrics 1985; 76: 206-18.
138. Smith RS, Zabaleta A, Kume T et al. Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development. Hum Mol Genet 2000; 9: 1021-32.
139. Stemmer R. Ein klinisches Zeichen zur Früh- und Differentialdiagnose des Lymphödems. Vasa 1976; 5: 261-2.
140. Tartaglia M, Kalidas K, Shaw A et al. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 2002; 70: 1555-63.
141. Tartaglia M, Mehler EL, Goldberg R et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001; 29: 465-8.
142. Tartaglia M, Niemeyer CM, Fragale A et al. Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet 2003; 34: 148-50.
143. Teebi AS, Rucquoi JK, Meyn MS. Aarskog syndrome: report of a family with review and discussion of nosology. Am J Med Genet 1993; 46: 501-9.
144. Thiadens SR. Current status of education and treatment resources for lymphedema. Cancer 1998; 83(12 Suppl American): 2864-8.
145. Urioste M, Arroyo A, Martinez-Frias ML. Campomelia, polycystic dysplasia, and cervical lymphocele in two sibs. Am J Med Genet 1991; 41: 475-7.
146. Van Balkom ID, Alders M, Allanson J et al. Lymphedema-lymphangiectasia- mental retardation (Hennekam) syndrome: a review. Am J Med Genet 2002; 112: 412-21.
147. Wells GC. Primary unilateral megalymphatic lymphoedema. J. R. Soc. Med. 1979; 72: 63-4.
148. Witt D, Allanson J, Wadsworth L et al. Bleeding disorders in 7 cases of Noonan syndrome; further evidence of heterogeneity. (Abstract). Am J Hum Genet 1985; 37: A83.
149. Witt DR, Hoyme HE, Zonana J et al. Lymphedema in Noonan syndrome: clues to pathogenesis and prenatal diagnosis and review of the literature. Am J Med Genet 1987; 27: 841-56.
150. Witt DR, McGillivray BC, Allanson JE et al. Bleeding diathesis in Noonan syndrome: a common association. Am J Med Genet 1988; 31: 305-17.
151. Yildirim-Toruner C, Subramanian K, El Manjra L et al. A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus. American journal of medical genetics. Part A 2004; 131 A(3): 281.
152. Zerfas AJ, Wallace HJ. Yellow nail syndrome with bilateral bronchiectasis. Proc Roy Soc Med 1966; 59: 448.