Sister and brother with Vici syndrome: Agenesis of the corpus callosum, albinism, and recurrent infections

American Journal of Medical Genetics

Volumn 109, Issue 1, 2002, Pages 61-66

  Chiyonobu, Tomohiro ^a   Yoshihara, Takao ^a   Fukushima, Yoko ^a   Yamamoto, Yasutoshi ^b   Tsunamoto, Kentaro ^b   Nishimura, Yasutaka ^b   Ishida, Hiroyuki ^c   Toda, Tatsushi ^c   Kasubuchi, Yasuo ^a  

^a MATSUSHITA MEMORIAL HOSPITAL   (Japan)

^b KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

^c OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Agenesis of the corpus callosum; Albinism; Cardiomyopathy; Developmental delay; Immunodeficiency; Vici syndrome

Indexed keywords

ALBINISM; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARDIOMYOPATHY; CASE REPORT; CATARACT; CLINICAL FEATURE; CORPUS CALLOSUM AGENESIS; DEVELOPMENTAL DISORDER; FEMALE; GROWTH RETARDATION; HUMAN; IMMUNE DEFICIENCY; INFANT; MALE; MUSCLE HYPOTONIA; PRIORITY JOURNAL; RECURRENT INFECTION; SIBLING; VICI SYNDROME;

ABNORMALITIES, MULTIPLE; ALBINISM; CORPUS CALLOSUM; FAMILY HEALTH; FATAL OUTCOME; FEMALE; HUMANS; INFANT; MALE; SKIN DISEASES, INFECTIOUS; SYNDROME;

RAPHIA FRATER;

EID: 0037089941     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10298     Document Type: Article

References (3)

1. Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance
2. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy
3. Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers