Macrocephaly with cutis marmorata, haemangioma and syndactyly - A distinctive overgrowth syndrome

Clinical Dysmorphology

Volumn 6, Issue 4, 1997, Pages 291-302

  Clayton Smith, J ^a   Kerr, B ^b   Brunner, H ^c   Tranebjaerg, L ^d   Magee, A ^e   Hennekam, R C M ^f   Mueller, R F ^g   Brueton, L ^h   Super, M ^b   Steen Johnsen, J ⁱ   Donnai, D ^a  

^a ST MARY S HOSPITAL   (United Kingdom)

^b ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

^e BELFAST CITY HOSPITAL   (United Kingdom)

^f ACADEMIC MEDICAL CENTER   (Netherlands)

^g ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^h NORTHWICK PARK HOSPITAL   (United Kingdom)

ⁱ TELEMARK HOSPITAL   (Norway)

Author keywords

Cutis marmorata; Hemihypertrophy; Macrocephaly; Overgrowth

Indexed keywords

ARTERIOVENOUS MALFORMATION; ARTICLE; CAPILLARY HEMANGIOMA; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL MALFORMATION; FEMALE; GROWTH RETARDATION; HUMAN; HYDROCEPHALUS; MACROCEPHALY; MALE; NEWBORN; PHILTRUM; PRIORITY JOURNAL; SYNDACTYLY; TELANGIECTASIA; UPPER LIP;

ABNORMALITIES, MULTIPLE; BODY WEIGHT; CHILD, PRESCHOOL; FEMALE; HEMANGIOMA; HUMANS; INFANT, NEWBORN; MALE; MENTAL RETARDATION; SYNDROME;

EID: 9844227900     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-199710000-00001     Document Type: Article

References (10)

1. Cristaldi A, Vigevano F, Antoniazzi G, di Capua M, Andreuzzi A, Morselli G, Iorio F, Fariello G, Trasimeni G, Gualdi GF, Iannetti P (1995): Hemimegalencephaly, hemihypertrophy and vascular lesions. Eur J Pediatr 154: 134-137.
2. Donnai D, Read AP, McKeown C, Andrews T (1988): Hypomelanosis of Ito: a manifestation of mosaicism or chimerism. J Med Gen 25: 809-818.
3. Gorlin RJ, Meskin LH (1962): Congenital hemihypertrophy: review of the literature and report of a case with special emphasis on oral manifestations. J Pediatrics 61: 870-879.
4. Huizing M, Ruitenbeek W, Thinnes FP, DePinto V, Wendel U, Trijbels FJM, Smit LME, Ter Laak HJ, Van den Heuvel LP (1996): Deficiency of the voltage dependent anion channel: A novel cause of mitochindriopathy. Pediatr Research 39: 760-765.
5. Meyer E (1979): Neurocutaneous syndrome with excessive macrohydrocephalus (Sturge-Weber/Klippel-Trenauney syndrome). Neuropädiatrics 10: 67-75.
6. Reardon W, Harding B, Winter RM, Baraitser M (1996): Hemihypertrophy, hemimegalencephaly and polydactyly. Am J Med Gen 66: 144-149.
7. Ringrose RE, Jabbour JT, Keele DK (1965): Hemihypertrophy. Pediatrics 36: 434-448.
8. Stephan MJ, Hall BD, Smith DW, Cohen MMJr (1975): Macrocephaly in association with unusual cutaneous angiomatosis. J Pediatrics 87: 353-359.
9. Toriello H, Moore C, Dobyns W (1996): Macrocephaly-cutis marmorata telangiectatica congenita: description of twelve patients with this previously undescribed multiple congenital anomaly syndrome. Eur J Hum Genet 4: Supp 1; p2.
10. Viljoen D, Pearn J, Beighton P (1984): Manifestations and natural history of idiopathic hemihypertrophy: a review of eleven cases. Clin Genet 26: 81-86.