Tracheal anomalies in Pfeiffer syndrome.
OBJECTIVE
To determine the types and frequency of airway anomalies in patients with Pfeiffer syndrome.


METHODS
Retrospective case series.


METHODS
Academic tertiary care pediatric hospital.


METHODS
Eleven patients with Pfeiffer syndrome, 6 of whom were severely affected, were identified. All were included in the study.


METHODS
Presence of tracheal anomalies, need for tracheotomy, and length of life.


RESULTS
The 6 severely affected patients had mutations in genes that code for fibroblast growth factor receptor 2 (S351C [3 patients]; C342S [2 patients]; and W290C [1 patient]). Five of these patients were diagnosed during bronchoscopy or tracheotomy as having a congenital tracheal cartilaginous sleeve. In 1 patient, supportive care was withdrawn at 2 weeks of life, and the patient died. The remaining 5 patients required tracheotomy because of severe upper airway obstruction. Three of these patients died (at ages 9 months and 7 and 15 years). Two are still alive at ages 23 and 18 months.


CONCLUSIONS
Patients with Pfeiffer syndrome manifest significant airway pathologic conditions. Upper airway obstruction is related to midface hypoplasia and secondary nasal obstruction. Tracheal anomalies have been infrequently reported.
Hockstein
Neil G
NG
Division of Otolaryngology, Department of Molecular Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
McDonald-McGinn
Donna
D
Zackai
Elaine
E
Bartlett
Scott
S
Huff
Dale S
DS
Jacobs
Ian N
IN
D000168:Acrocephalosyndactylia / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D000293:Adolescent; D001999:Bronchoscopy; D002648:Child; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012189:Retrospective Studies; D014132:Trachea / Q000002:abnormalities* / Q000473:pathology; D014140:Tracheotomy