Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder

American Journal of Medical Genetics, Part A

Volumn 146, Issue 20, 2008, Pages 2688-2690

  Gucev, Zoran S ^a   Tasic, Velibor ^a   Jancevska, Aleksandra ^a   Konstantinova, Marina Krstevska ^a   Pop Jordanova, Nada ^a   Trajkovski, Zoran ^a   Biesecker, Leslie G ^b  

^a SS CYRIL AND METHODIUS UNIVERSITY OF SKOPJE   (Macedonia)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

Agenesis of corpus callosum; Cataracts; CLOVE syndrome; Hemimegalencephaly; Lymphatic vascular malformation; Overgrowth

Indexed keywords

ANTICONVULSIVE AGENT;

ALEXANDER DISEASE; ARTICLE; CASE REPORT; CATARACT; CENTRAL NERVOUS SYSTEM MALFORMATION; CHROMOSOME ANALYSIS; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL BLOOD VESSEL MALFORMATION; CONGENITAL LIPOMATOUS OVERGROWTH VASCULAR MALFORMATION AND EPIDERMAL NEVI SYNDROME; CONVULSION; CORPUS CALLOSUM AGENESIS; ENCEPHALOMALACIA; FEMALE; GENETIC DISORDER; GROWTH DISORDER; HUMAN; INFANT; MULTIPLE CANCER; NYSTAGMUS; PRIORITY JOURNAL; PTOSIS; SEIZURE;

ABNORMALITIES, MULTIPLE; CORPUS CALLOSUM; FEMALE; FOOT DEFORMITIES, CONGENITAL; HUMANS; INFANT, NEWBORN; LIPOMATOSIS; LYMPHATIC ABNORMALITIES; MALFORMATIONS OF CORTICAL DEVELOPMENT; NEVUS; PREGNANCY; SEIZURES; SYNDROME; VASCULAR MALFORMATIONS;

EID: 55549090744     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32515     Document Type: Article

References (11)

1. Barker K, Martinez A, Wang R, Bevan S, Murday V, Shipley J, Houlston R, Harper J. 2001. PTEN mutations are uncommon in Proteus syndrome. J Med Genet 38:480-481.
2. Biesecker L. 2006. The challenges of Proteus syndrome: Diagnosis and management. Eur J Hum Genet 14:1151-1157.
3. Biesecker LG, Happle R, Mulliken JB, Weksberg R, Graham JM Jr, Viljoen DL, Cohen MM Jr. 1999. Proteus syndrome: Diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet 84:389-395.
4. De Becker I, Gajda DJ, Gilbert-Barness E, Cohen MM Jr. 2000. Ocular manifestations in Proteus syndrome. Am J Med Genet 92:350-352.
5. Griffiths PD, Welch RJ, Gardner-Medwin D, Gholkar A, McAllister V. 1994. The radiological features of hemimegalencephaly including three cases associated with proteus syndrome. Neuropediatrics 25:140-144.
6. Happle R. 1999. Elattoproteus syndrome: Delineation of an inverse form of Proteus syndrome. Am J Med Genet 84:25-28.
7. McCall S, Ramzy MI, Cure JK, Pai GS. 1992. Encephalocraniocutaneous lipomatosis and the Proteus syndrome: Distinct entities with overlapping manifestations. Am J Med Genet 43:662-668.
8. Rizzo R, Pavone L, Micali G, Nigro F, Cohen MM Jr. 1993. Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism. Am J Med Genet 47:653-655.
9. Sapp JC, Turner JT, van de Kamp JM, van Dijk FS, Lowry RB, Biesecker LG. 2007. Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. Am J Med Genet Part A 143A:2944-2958.
10. Sheard RM, Pope FM, Snead MP. 2002. A novel ophthalmic presentation of the Proteus syndrome. Ophthalmology 109:1192-1195.
11. Turner JT, Cohen MM Jr, Biesecker LG. 2004. Reassessment of the Proteus syndrome literature: Application of diagnostic criteria to published cases. Am J Med Genet Part A 130A:111-122.