A case of persistent pulmonary hypertension in a newborn with Costello syndrome

Clinical Dysmorphology

Volumn 17, Issue 4, 2008, Pages 287-288

  O'Shea, Joyce ^a   Lynch, Sally Ann ^a   Macken, Sheila ^a  

^a CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CLINICAL FEATURE; COSTELLO SYNDROME; CUTIS LAXA; DISEASE ASSOCIATION; GENE; GENE MUTATION; HRAS GENE; HUMAN; INFANT; MALE; NEWBORN; PRIORITY JOURNAL; PULMONARY HYPERTENSION; SYNDROME DELINEATION; THORAX RADIOGRAPHY;

ABNORMALITIES, MULTIPLE; HEART DEFECTS, CONGENITAL; HUMANS; HYPERTENSION, PULMONARY; INFANT; MALE; MUTATION; PROTO-ONCOGENE PROTEINS P21(RAS); SYNDROME;

EID: 55349086571     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e3283079e68     Document Type: Article

References (4)

1. Cua CL, Blankenship A, North AL, Hayes J, Nelin LD. (2007). Increased Incidence of Idiopathic persistent pulmonary hypertension in Down syndrome neonates. Pediatr Cardiol 28:250-254.
2. Frenzel K, Amann G, Lubec B (1998). Deficiency of laryngeal collagen type II in an infant with respiratory problems. Arch Dis Child 78:657-559.
3. Kerr B, Delrue MA, Sigaudy S, Perveen R, Marche M, Burgelin I, et al. (2006). Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. J Med Genet 43:401-405.
4. Lo IF, Brewer C, Shannon N, Shorto J, Tang B, Black G, et al. (2008). Severe neonatal manifestations of Costello syndrome. J Med Genet 45:161-171.