Craniosynostosis with tracheal sleeve: A patient with Pfeiffer syndrome, tracheal sleeve and additional malformations in whom an FGFR2 mutation was found

Clinical Dysmorphology

Volumn 12, Issue 3, 2003, Pages 209-

  Zackai, Elaine H ^a   McDonald McGinn, Donna M ^a   Stolle, Catherine ^a   Huff, Dale S ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

Craniosynostosis; FRFG2 mutation; Pfieffer syndrome; Tracheal sleeve

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR; FIBROBLAST GROWTH FACTOR RECEPTOR 2; PROTEIN TYROSINE KINASE;

ACROCEPHALOSYNDACTYLY; AMINO ACID SUBSTITUTION; ARTICLE; AUTOPSY; CASE REPORT; CLINICAL FEATURE; CODON; CONGENITAL MALFORMATION; CRANIOFACIAL SYNOSTOSIS; DISEASE COURSE; EXON; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GENETICS; HUMAN; INFANT; MULTIPLE MALFORMATION SYNDROME; MUTATIONAL ANALYSIS; PATHOLOGY; PRIORITY JOURNAL; TRACHEA; TRACHEA DISEASE; TRACHEAL SLEEVE;

EID: 0042367676     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200307000-00015     Document Type: Article

References (3)

1. Cohen MM, Kreiborg S (1992). Upper and lower airway compromise in the Apert syndrome. Am J Med Genet 44:90-93.
2. Kan S, et al. (2002). Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet 70:472-486.
3. Okajima K, Aoki I, Sagehashi N, Malcolm S, Winter RM (2003). Three craniosynostotic patients with tracheal sleeve. Clin Dysmorphol 12:75.