MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: Report of ten cases and review of the literature

Genetic Counseling

Volumn 16, Issue 2, 2005, Pages 117-128

  Garavelli, Livia ^a   Leask, K ^b   Zanacca, C ^a   Pedori, S ^a   Albertini, G ^a   Della Giustina, E ^a   Croci, G F ^a   Magnani, C ^a   Banchini, G ^a   Clayton Smith, J ^b   Bocian, M ^c   Firth, H ^d   Gold, J A ^e   Hurst, J ^e  

^a S MARIA NUOVA HOSPITAL   (Italy)

^b ST MARY S HOSPITAL   (United Kingdom)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^e CHURCHILL HOSPITAL   (United Kingdom)

Author keywords

Cutis Marmorata; Hemihypertrophy; M CMTC; Macrocephaly; Macrocephaly Cutis Marmorata Telangiectatica Congenita Syndrome; Overgrowth

Indexed keywords

ALEXANDER DISEASE; BUDD CHIARI SYNDROME; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; CUTIS MARMORATA TELANGIECTATICA CONGENITA; DEVELOPMENTAL DISORDER; FEMALE; HEMISPHERE; HIGH RISK PATIENT; HUMAN; HYDROCEPHALUS; INFANT; KARYOTYPE; MALE; MENTAL DEFICIENCY; NEUROLOGIC EXAMINATION; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOLOGY; PHENOTYPE; RADIODIAGNOSIS; REVIEW; WHITE MATTER;

ABNORMALITIES, MULTIPLE; BRAIN; CHILD; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; FEMALE; FOLLOW-UP STUDIES; FUNCTIONAL LATERALITY; GROWTH DISORDERS; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; PHENOTYPE; SKIN ABNORMALITIES; SKIN DISEASES, VASCULAR; SYNDACTYLY; SYNDROME; TELANGIECTASIS;

MARMORATA;

EID: 22444432968     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (15)

1. BARALLE D., FIRTH H.: A case of the new overgrowth syndrome-macrocephaly with cutis marmorata, haemangioma and syndactyly. Clin. Dysmorphol., 2000, 9, 209-211.
2. CARCAO M., BLASER S.I., GRANT R.M., WEKSBERG R., SIEGEL-BARTELT J.: MRI findings in Macrocephaly-cutis marmorata telangiectatica congenita. Am. J. Med. Genet., 1998, 75, 165-167.
3. CLAYTON-SMITH J., KERR B., BRUNNER H., TTANEB-JAERG L, MAGEE A., HENNEKAM R.C.M., MUELER R.F., BRUETON L., SUPER M., STEEN-JOHNSEN J., DONNAI D.: Macrocephaly with cutis marmorata, haemangioma and syndactyly-a distinctive overgrowth syndrome. Clin. Dysmorphol., 1997, 6, 291-302.
4. FRANCESCHINI P., LICATA D., DI CARA G., GUALA A., FRANCESCHINI D., GENITORI L: Macrocephalycutis marmorata telangiectatica congenita without cutis marmorata? Am. J. Med. Genet., 2000, 90, 265-269.
5. LIN A.E., GROSSFIELD P.D., HAMILTON R.M., SMOOT L., GRIPP K.W., PROUD V., WEKSBERG R., WHEELER P., PICKER J., IRONS M., ZACKAI E., MARINO B., SCOTT L.I. Jr., NICHOLSON L.: Further delineation of cardiac abnormalities in Costello syndrome. Am. J. Med. Genet., 2002, 111 (2), 115-129.
6. MEYER E.: Neurocutaneous syndrome with excessive macrohydrocephalus (Sturge-Weber/Klippel-Trenaunay syndrome. Neuropadiatrics, 1979, 10, 67-75.
7. MOORE C.A., TORIELLO H.V., ABUELO D.N., BULL M.J., CURRY C.J.R., HALL B.D., HIGGINS J.V., STEVENS C.A., TWERSKY S., WEKSBERG R., DOBYNS W.B.: Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities. Am. J. Med. Genet., 1997, 70, 67-73.
8. PEHR K., MOROZ B.: Cutis marmorata teleangiectatica congenita: Long-term follow-up, review of the literature and report of a case in conjunction with congenital hypothyroidism. Pediatr. Dermatol., 1993, 10, 6-11.
9. ROBERTSON S.P., GATTAS M., ROGERS M., ADES L.C.: Macrocephaly-cutis marmorata telangiectatica congenita: report of five patients and a review of the literature. Clin. Dysmorphol., 2000, 9, 1-9.
10. STEPHAN M.J., HALL B.D., SMITH D.W., COHEN M.M. Jr.: Macrocephaly in association with unusual cutaneos angiomatosis. J. Pediatr., 1975, 87, 353-357.
11. STOLL C.: Macrocephaly-cutis marmorata telangiectatica congenita: report of a patient with a translocation. Genet. Counsel., 2003, 14(2), 173-179.
12. VAN LOHUIZEN C.H.J.: Uber eine seltene angeborene hautanomalie (cutis marmorata telangiectatica congenita). Acta Derm. Venereol. (Stockh.), 1922, 3, 202-211.
13. VOGELS A., DEVRIENDT K., LEGIUS E., DECOCK P., MARIEN J., HENDRICKX G., FRYNS J.P: The macrocephaly-cutis marmorata telangiectatica congenita syndrome. Long-term follow-up data in 4 children and adolescents. Genet. Counsel., 1998, 9 (4), 245-253.
14. WAY B.H., HERRMANN J., GILBERT E.F., JOHNSON S.A.M., OPITZ J.M.: Cutis marmorata teleangiectatica congenital. J. Cutaneous Path., 1974, 1, 10-25.
15. YANO S., WATANABE Y.: Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome. Am. J. Med. Genet., 2001, 102, 149-152.