Microcephalic osteodysplastic primordial dwarfism type II: A child with café au lait lesions, cutis marmorata, and Moyamoya disease [3]

American Journal of Medical Genetics

Volumn 128 A, Issue 1, 2004, Pages 98-100

  Kannu, Peter ^a   Aftimos, Salim ^a   Kelly, Patrick ^b  

^a AUCKLAND CITY HOSPITAL   (New Zealand)

^b STARSHIP CHILDREN S HOSPITAL   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD VESSEL SHUNT; BRAIN ANGIOGRAPHY; CAFE AU LAIT SPOT; CASE REPORT; CHILD; CUTIS MARMORATA; CYTOGENETICS; DWARFISM; ENCEPHALODUROARTERIOSYNANGIOSIS; FACE DYSMORPHIA; FEMALE; GROWTH RETARDATION; HUMAN; LETTER; LIMB MALFORMATION; MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II; MICROCEPHALY; MOYAMOYA DISEASE; NEUROFIBROMATOSIS; NEUROSURGERY; PRIORITY JOURNAL; SKIN DISEASE;

MARMORATA;

EID: 3042767201     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30086     Document Type: Letter

References (12)

1. Baxter P, Gardner-Medwin D, Green SH, Moss C. 1993. Congenital livedo reticularis and recurrent stroke-like episodes. Dev Med Child Neurol 35:917-921.
2. Fukuzawa R, Sato S, Sullivan M, Nishimura G, Hasegawa T, Matsuo N. 2002. Autopsy case of microcephalic osteodysplastic primordial "dwarfism" type II. Am J Med Genet 113:93-96.
3. Gruppo RA, DeGrauw TJ, Palasis S, Kalinyak KA, Bofinger MK. 1998. Strokes, cutis marmorata, telangiectatica congenita, and Factor V Leiden. Pediatr Neurol 18:342-345.
4. Isono M, Ishii K, Kamida T, Inoue R, Fujiki M, Kobayashi H. 2002. Long term outcomes of pediatric moyamoya disease treated by encephalo-duroarterio- synangiosis. Pediatr Neurosur 36:14-21.
5. Majewski F, Goecke T. 1998. Microcephalic osteodysplastic primordial dwarfism Type II: Report of three cases and review. Am J Med Genet 80:25-31.
6. Morgan JM, Naisby GP, Carmichael AJ. 1997. Cutis marmorata telangiectatica congenita with hypoplasia of the right iliac and femoral veins. Br J Dermatol 137:119-122.
7. Mu SC, Hung HY, Chiu NC, Chen HH, Chen LJ. 1997. Cutis marmorata telangiectatica congenita with cerebral and ophthalmic annomalies:report of one case. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 38: 65-68.
8. Nishimura G, Hasegawa T, Fujino M, Hori N, Tomita Y. 2003. Microcephalic osteodysplastic primordial short stature Type II with cafe-au-Lait spots and moyamoya disease. Am J Med Genet 117A:299-301.
9. Ross IB, Shevell MI, Montes JL, Rosenblatt B, Watters GV, Farmer JP, O'Gorman AM. 1994. Encepaloduroarteriosynangiosis (EDAS) for the treatment of childhood moyamoya disease. Pediatr Neurol 10:199-204.
10. Skaria AM, Hauser C. 1995. Arterial occlusion in cutis marmorata teleangiectatica congenita. Hautarzt 46:35-38.
11. South DA, Jacobs AH. 1978. Cutis marmorata telangiectatica congenita (congenital generalised phlebectasia). J Pediatr 93:944-949.
12. Yamauchi T, Tada M, Houkin K, Tanaka T, Nakamura Y, Kuroda S, Abe H, Inoue T, Ikezaki K, Matsushima T, Fukui M. 2000. Linkage of familial moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25. Stroke 31:930-935.