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

Clin Dysmorphol. 2008 Jul;17(3):223-224. doi: 10.1097/MCD.0b013e3282fdcc86.

Authors

Lucinda Freeman¹, George Elakis, Geoff Watson, Glenda L Mullan, Peter J Taylor, Peter Anderson, Robert Ogle, Michael F Buckley, Tony Roscioli

Affiliation

¹ Sydney South West Genetic Service SEALS Molecular and Cytogenetics Laboratory, Department of Haematology and Genetics, Prince of Wales Hospital Department of Anatomical Pathology, Royal Prince Alfred Hospital Australian Craniofacial Unit, Adelaide University of Sydney, Australia.

PMID: 18541976
DOI: 10.1097/MCD.0b013e3282fdcc86

No abstract available

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / pathology
Acrocephalosyndactylia / genetics*
Acrocephalosyndactylia / pathology
Airway Obstruction / genetics*
Airway Obstruction / pathology
Fatal Outcome
Humans
Infant, Newborn
Male
Point Mutation
Receptor, Fibroblast Growth Factor, Type 2 / genetics*
Tracheal Diseases / genetics*
Tracheal Diseases / pathology

Substances

FGFR2 protein, human
Receptor, Fibroblast Growth Factor, Type 2