Extending the phenotypic spectrum of CHARGE syndrome: A case with preaxial polydactyly

Clinical Dysmorphology

Volumn 19, Issue 1, 2010, Pages 33-34

  Douglas, Andrew G L ^a   Lam, Wayne ^b  

^a NOTTINGHAM CITY HOSPITAL   (United Kingdom)

^b WESTERN GENERAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BRADYCARDIA; CASE REPORT; CHOANA ATRESIA; COLOBOMA; FACE DYSMORPHIA; GASTROESOPHAGEAL REFLUX; GENE MUTATION; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INFANT; MALE; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; SYNDROME CHARGE; TRACHEOESOPHAGEAL FISTULA;

CHOANAL ATRESIA; CHORION; COLOBOMA; CONGENITAL ABNORMALITIES; ECHOCARDIOGRAPHY; ESOPHAGUS; FATAL OUTCOME; FISTULA; GASTROESOPHAGEAL REFLUX; GENITAL DISEASES, MALE; HEART SEPTAL DEFECTS, VENTRICULAR; HUMANS; INFANT; MALE; POLYDACTYLY; RETINA; SYNDROME; TRACHEA;

EID: 74549217760     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e328331de4c     Document Type: Article

References (4)

1. Blake KD, Prasad C (2006). CHARGE syndrome. Orphanet J Rare Dis 1:34.
2. Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L, et al. (2006). CHARGE syndrome: The phenotypic spectrum of mutations in the CHD7 gene. J Med Genet 43:306-314.
3. Meinecke P, Polke A, Schmiegelow P (1989). Limb anomalies in the CHARGE association. J Med Genet 26:202-203.
4. Sanlaville D, Verloes A (2007). CHARGE syndrome: An update. Eur J Hum Genet 15:389-399.