Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation

Clinical Dysmorphology

Volumn 17, Issue 3, 2008, Pages 223-224

  Freeman, Lucinda ^a   Elakis, George ^a   Watson, Geoff ^b   Mullan, Glenda L ^a   Taylor, Peter J ^a   Anderson, Peter ^c   Ogle, Robert ^a   Buckley, Michael F ^a   Roscioli, Tony ^a,d,e  

^a PRINCE OF WALES HOSPITAL   (Australia)

^b ROYAL PRINCE ALFRED HOSPITAL   (Australia)

^c Australian Craniofacial Unit   (Australia)

^d UNIVERSITY OF SYDNEY   (Australia)

^e New South Wales Government   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2 PROTEIN, HUMAN;

ACROCEPHALOSYNDACTYLY; ARTICLE; AUTOPSY; BIRTH WEIGHT; CASE REPORT; CRANIOFACIAL MALFORMATION; EMPHYSEMA; ENDOTRACHEAL INTUBATION; EXOPHTHALMOS; GENE; GENE MUTATION; GESTATIONAL AGE; HEAD CIRCUMFERENCE; HUMAN; HYPERTELORISM; INFANT; MALE; NEWBORN DEATH; NUCLEOTIDE SEQUENCE; PERIORBITAL EDEMA; PRIORITY JOURNAL; TRACHEA OBSTRUCTION; AIRWAY OBSTRUCTION; FATALITY; GENETICS; MULTIPLE MALFORMATION SYNDROME; NEWBORN; PATHOLOGY; POINT MUTATION; TRACHEA DISEASE;

ABNORMALITIES, MULTIPLE; ACROCEPHALOSYNDACTYLIA; AIRWAY OBSTRUCTION; FATAL OUTCOME; HUMANS; INFANT, NEWBORN; MALE; POINT MUTATION; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; TRACHEAL DISEASES;

EID: 51449085629     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e3282fdcc86     Document Type: Article

References (4)

1. Kan SH, Elanko N, Johnson D, Cornejo-Roldan L, Cook J, Reich EW, 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.
2. Spilde TL, Bhatia AM, Marosky JK, Preuett B, Kobayashi H, Hembree MJ, et al. (2003). Fibroblast growth factor signaling in the developing tracheoesopha-geal fistula. J Pediatr Surg 38:474-477; discussion 474-477.
3. Wang Y, Xiao R, Yang F, Karim BO, Iacovelli AJ, Cai J, et al. (2005). Abnormalities in cartilage and bone development in the Apert syndrome FGFR2 ( + /S252W) mouse. Development 132:3537-3548.
4. Zankl A, Jaeger G, Bonafe L, Boltshauser E, Superti-Furga A (2004). Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome. Am J Med Genet A 131:299-300