Two brothers with Burn-McKeown syndrome

Clinical Dysmorphology

Volumn 12, Issue 3, 2003, Pages 171-174

  Wieczorek, Dagmar ^a   Teber, Özge Altug ^a   Lohmann, Dietmar ^a   Gillessen Kaesbach, Gabriele ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

CHARGE association; Choanal atresia; Lower lid coloboma; Prominent nasal bridge; Protruding ears; Treacher Collins syndrome

Indexed keywords

ARTICLE; BURN MCKEOWN SYNDROME; CASE REPORT; CHILD; CHOANA ATRESIA; CLEFT PALATE; COLOBOMA; CONGENITAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; FACE; FACE DYSMORPHIA; FACIES; FISTULA; GENETICS; HUMAN; HYPERTELORISM; INFANT; KIDNEY HYPOPLASIA; MALE; MULTIPLE MALFORMATION SYNDROME; PALPEBRAL FISSURE ANOMALY; PATHOLOGY; PHENOTYPE; PRIORITY JOURNAL; SIBLING; X CHROMOSOME;

EID: 0042367683     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200307000-00004     Document Type: Article

References (5)

1. Burn J, McKeown C, Wagget J, Bray R, Goodship J (1992). New dysmorphic syndrome with choanal atresia in siblings. Clin Dysmorphol 1:137-144.
2. Dixon M (1995). Treacher Collins syndrome. J Med Genet 32:806-808.
3. Tellier A-L, Cormier-Daire V, Abadie V, Amiel J, Sigaudy S, Bonnet D, et al. (1998). CHARGE syndrome: Report of 47 cases and review. Am J Med Genet 76:402-409.
4. The Treacher Collins Syndrome Collaborative Group (1996). Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat Genet 12:124-129.
5. Toriello HV, Higgins JV (1999). A boy with choanal atresia and cardiac defect: Burn-McKeown syndrome? Clin Dysmorphol 8:143-145.