A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies

American Journal of Medical Genetics, Part A

Volumn 155, Issue 2, 2011, Pages 301-306

  Carter, Melissa T ^a   Geraghty, Michael T ^b   De La Cruz, Laura ^c   Reichard, R Ross ^c   Boccuto, Luigi ^d   Schwartz, Charles E ^d   Clericuzio, Carol L ^c  

^a HOLLAND BLOORVIEW KIDS REHABILITATION HOSPITAL   (Canada)

^b CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^c UNIVERSITY OF NEW MEXICO HEALTH SCIENCES CENTER   (United States)

^d GREENWOOD GENETIC CENTER   (United States)

Author keywords

Capillary malformations; Hypoplasia of distal phalanges; Microcephaly; Progressive brain atrophy; Seizures

Indexed keywords

CLONAZEPAM; LAMOTRIGINE; OXCARBAZEPINE; PHENOBARBITAL; TOPIRAMATE;

ARTICLE; BRAIN ATROPHY; CASE REPORT; CHILD; CLINICAL FEATURE; FACE DYSMORPHIA; HUMAN; INFANT; INTRACTABLE EPILEPSY; KETOGENIC DIET; MALE; MICROCEPHALY; NEVUS FLAMMEUS; PHALANX HYPOPLASIA; PRESCHOOL CHILD; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; CAPILLARIES; CHILD, PRESCHOOL; HUMANS; INFANT, NEWBORN; KARYOTYPING; LIMB DEFORMITIES, CONGENITAL; MALE; MICROARRAY ANALYSIS; MICROCEPHALY; PORT-WINE STAIN; SEIZURES; SYNDROME;

EID: 79251497037     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33841     Document Type: Article

References (7)

1. Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, Vanwijck R, Vikkula M. 2003. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA-1 mutations. Am J Hum Genet 73:1240-1249.
2. Happle R. 2008. What is a capillary malformation? J Am Acad Dermatol 59:1077-1079.
3. Henkemeyer M, Rossi DJ, Holmyard DP, Puri MC, Mbamalu G, Harpal K, Shih TS, Jacks T, Pawson T. 1995. Vascular system defects and neuronal apoptosis in mice lacking Ras GTPase-activating protein. Nature 377:695-701.
4. Jacobs AH, Walton RG. 1976. The incidence of birthmarks in the neonate. Pediatrics 58:218-222.
5. Leech SN, Taylor AEM, Ramesh V, Birchall D, Lynch SA. 2004. Widespread capillary malformation associated with global developmental delay and megalencephaly. Clin Dysmorph 13:169-172.
6. Rydh M, Malm M, Jernbeck J, Dalsgaard CJ. 1991. Ectatic blood vessels in port-wine stains lack innervation: Possible role in pathogenesis. Plast Reconstr Surg 87:419-422.
7. Upton CJ, Young ID. 1993. Severe developmental delay and multiple strawberry naevi: A new syndrome? J Med Genet 30:883-884.