Microcephalic osteodysplastic primordial short stature type II with café-au-lait spots and moyamoya disease: Another patient [3]

American Journal of Medical Genetics

Volumn 127 A, Issue 2, 2004, Pages 218-220

  Young, Ian D ^a   Barrow, Margaret ^a   Hall, Christine M ^b  

^a LEICESTER ROYAL INFIRMARY   (United Kingdom)

^b Children's Hospital   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BODY WEIGHT; BONE DYSPLASIA; BRAIN ANGIOGRAPHY; BRAIN INFARCTION; CAFE AU LAIT SPOT; CASE REPORT; CHILD; CLINICAL FEATURE; CLINODACTYLY; CONSANGUINEOUS MARRIAGE; CONVULSION; FEMALE; GROWTH RETARDATION; HUMAN; LETTER; MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL SHORT STATURE TYPE II; MICROCEPHALY; MOYAMOYA DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RECURRENT DISEASE; SHORT STATURE; SYMPTOM; TREATMENT FAILURE;

EID: 2442430342     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20647     Document Type: Letter

References (5)

1. Echenne BP, Leboucq N, Humbertclaude V. 1995. Ito hypomelanosis and moyamoya disease. Pediatr Neurol 13:169-171.
2. Ikeda H, Sasaki T, Yoshimoto T, Fukui M, Arinami T. 1999. Mapping of a familial moyamoya disease gene to chromosome 3p24.2-p26. Am J Hum Genet 64:533-537.
3. Nishimura G, Hasegawa T, Fujino M, Hori N, Tomita Y. 2003. Microcephalic osteodysplastic primordial short stature type II with café-au-lait spots and moyamoya disease. Am J Med Genet 117A:299-301.
4. Pavlakis SG, Verlander PC, Gould RJ, Strimling BC, Auerbach AD. 1995. Fanconi anemia and moyamoya: Evidence for an association. Neurology 45:998-1000.
5. Pellegrino RJ, Shah AJ. 1994. Vascular occlusion associated with incontinentia pigmenti. Pediatr Neurol 10:73-74.