Klippel-Feil anomaly in Fanconi anemia

Clinical Dysmorphology

Volumn 12, Issue 3, 2003, Pages 197-

  McGaughran, Julie ^a,b  

^a AUCKLAND CITY HOSPITAL   (New Zealand)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

Fanconi anemia; Klippel Feil anomaly

Indexed keywords

ARTICLE; BODY HEIGHT; CASE REPORT; CHILD; CLINICAL FEATURE; CONGENITAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; FANCONI ANEMIA; GENETICS; HEARING LOSS; HUMAN; KLIPPEL FEIL SYNDROME; MALE; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; PHENOTYPE; PRIORITY JOURNAL; RECURRENCE RISK; SCHOOL CHILD; SPINE; SYNDROME VATER; VERTEBRA MALFORMATION;

EID: 0041866705     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200307000-00011     Document Type: Article

References (5)

1. Alter BP (1983). Fanconi's anaemia and its variability. Br J Haematol 85: 9-14.
2. Cox PM, Gibson RA, Morgan N, Brueton LA (1997). VACTERL with hydrocephalus in twins due to Fanconi anemia (FA): mutation in the FAC gene. Am J Med Genet 68: 86-90.
3. Glanz A, Fraser FC (1982). Spectrum of anomalies in Fanconi anemia. J Med Genet 19: 412-418.
4. Porteous ME, Cross I, Burn J (1992). VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum of anomalies? Am J Med Genet 43: 1032-1034.
5. Rossbach HC, Sutcliffe MJ, Haag MM, Grana NH, Rossi AR, Barbosa JL (1996). Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome. Am J Med Genet 61: 63-64.