Microcephaly, lymphedema, chorioretinopathy and atrial septal defect: A case report and review of the literature

Acta Paediatrica, International Journal of Paediatrics

Volumn 98, Issue 4, 2009, Pages 758-759

  Eventov Friedman, Smadar ^a   Singer, Amihood ^b   Shinwell, Eric S ^a,b  

^a HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^b KAPLAN MEDICAL CENTER   (Israel)

Author keywords

Atrial septal defect; Chorioretinopathy; Lymphedema; Microcephaly

Indexed keywords

ARTICLE; CASE REPORT; CHORIORETINOPATHY; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; ECHOCARDIOGRAPHY; FAMILY HISTORY; HEAD CIRCUMFERENCE; HEART ATRIUM SEPTUM DEFECT; HUMAN; INFANT; LYMPHEDEMA; MALE; MICROCEPHALY; NERVOUS SYSTEM DEVELOPMENT; OPHTHALMOLOGY; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; CHORIORETINITIS; DISEASE PROGRESSION; GENETIC SCREENING; HEART SEPTAL DEFECTS, ATRIAL; HUMANS; INFANT, NEWBORN; LYMPHEDEMA; MALE; MICROCEPHALY; NEONATAL SCREENING; PHENOTYPE; SYNDROME;

EID: 61849183228     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2008.01161.x     Document Type: Article

References (17)

1. Feingold M, Bartoshesky L. Microcephaly, lymphedema, and chorioretinal dysplasia: a distinct syndrome? Am J Med Genet 1992 43 : 1030 1.
2. Angle B, Holgado S, Burton BK, Miller MT, Shapiro MJ, Opitz JM. Microcephaly, lymphedema, and chorioretinal dysplasia: report of two additional cases. Am J Med Genet 1994 53 : 99 101.
3. Kozma C, Scribanu N, Gersh E. The microcephaly-lymphoedema syndrome: report of an additional family. Clin Dysmorphol 1996 5 : 49 54.
4. Alzial C, Dufier JL, Brasnu C, Aicardi J, de Grouchy J. "True" microcephaly with dominant-inheritance chorioretinal dysplasia. Ann Genet 1980 23 : 91 4.
5. Tenconi R, Clementi M, Moschini GB, Casara G, Baccichetti C. Chorio-retinal dysplasia, microcephaly and mental retardation. An autosomal dominant syndrome. Clin Genet 1981 20 : 347 51.
6. Warburg M, Heuer HE. Chorioretinal dysplasia-microcephaly-mental retardation syndrome. Am J Med Genet 1994 52 : 117.
7. Hordijk R, Van de Logt F, Houtman WA, Van Essen AJ. Chorioretinal dysplasia-microcephaly-mental retardation syndrome: another family with autosomal dominant inheritance. Genet Couns 1996 7 : 113 22.
8. Abdel-Salam GM, Czeizel AE, Vogt G, Imre L. Microcephaly with chorioretinal dysplasia: characteristic facial features. Am J Med Genet 2000 95 : 513 5.
9. McKusick VA, Stauffer M, Knox DL, Clark DB. Chorioretinopathy with hereditary microcephaly. Arch Ophthalmol 1966 75 : 597 600.
10. Limwongse C, Wyszynski RE, Dickerman LH, Robin NH. Microcephaly- lymphedema-chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance. Am J Med Genet 1999 86 : 215 8.
11. Vasudevan PC, Garcia-Minaur S, Botella MP, Perez-Aytes A, Shannon NL, Quarrell OW. Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature. Clin Dysmorphol 2005 14 : 109 16.
12. Opitz JM. On congenital lymphedema. Am J Med Genet 1986 24 : 127 9.
13. Connell F, Brice G, Mortimer P. Phenotypic characterization of primary lymphedema. Ann N Y Acad Sci 2008 1131 : 140 6.
14. Boucher CA, Sargent CA, Ogata T, Affara NA. Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location. J Med Genet 2001 38 : 591 8.
15. Loscalzo ML, Van PL, Ho VB, Bakalov VK, Rosing DR, Malone CA, et al. Association between fetal lymphedema and congenital cardiovascular defects in Turner syndrome. Pediatrics 2005 115 : 732 5.
16. Casteels I, Devriendt K, Van Cleynenbreugel H, Demaerel P, De Tavernier F, Fryns JP. Autosomal dominant microcephaly-lymphoedema-chorioretinal dysplasia syndrome. Br J Ophthalmol 2001 85 : 499 500.
17. Strauss RM, Ferguson AD, Rittey CD, Cork MJ. Microcephaly-lymphoedema- chorioretinal-dysplasia syndrome with atrial septal defect. Pediatr Dermatol 2005 22 : 373 4.