Vascular malformations and upper extremity anomalies associated with a subtelomeric microdeletion of chromosome 4p

Clinical Dysmorphology

Volumn 17, Issue 3, 2008, Pages 193-194

  Khonsari, Roman Hossein ^a   Blechman, Keith M ^b   Michaels, Joe ^b   Vigler, Mordechai ^b   Chiu, David T W ^b,c   Wallerstein, Robert ^d   Blei, Francine ^b  

^a NANTES UNIVERSITY HOSPITAL   (France)

^b NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^c New York University Medical Center ^*  (United States)

^d HACKENSACK UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 3;

ARM MALFORMATION; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 4P; CHROMOSOME DELETION; CHROMOSOME DISORDER; CONGENITAL BLOOD VESSEL MALFORMATION; DISEASE ASSOCIATION; FEMALE; GENETIC SCREENING; HUMAN; INFANT; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SYNDACTYLY; WOLF HIRSCHHORN SYNDROME; BLOOD VESSEL; CHROMOSOME 4; CONGENITAL MALFORMATION; GENETICS; HAND MALFORMATION; MULTIPLE MALFORMATION SYNDROME; RADIOGRAPHY; TELOMERE;

ABNORMALITIES, MULTIPLE; BLOOD VESSELS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 4; FEMALE; HAND DEFORMITIES, CONGENITAL; HUMANS; INFANT; SYNDACTYLY; TELOMERE;

EID: 51449108626     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e3282fdcc56     Document Type: Article

References (3)

1. Ban M, Kamiya H, Sato M, Kitajima Y (1998). Lipofibromatous hamartoma of the median nerve associated with macrodactyly and port-wine stains. Pediatr Dermatol 15:378-380.
2. Cohen MM Jr, Neri G (1998). New overgrowth syndrome and FGFR3 dosage effect. J Med Genet 35:348-349.
3. Van Buggenhout G, Melotte C, Dutta B, Froyen G, Van Hummelen P, Marynen P, et al. (2004). Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map. J Med Genet 41:691-698.