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Arch Otolaryngol Head Neck Surg. 2004 Nov;130(11):1298-302.

Tracheal anomalies in Pfeiffer syndrome.

Author information

1
Division of Otolaryngology, Department of Molecular Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Abstract

OBJECTIVE:

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

DESIGN:

Retrospective case series.

SETTING:

Academic tertiary care pediatric hospital.

PARTICIPANTS:

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

MAIN OUTCOME MEASURES:

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 In 1 patient, supportive care was withdrawn at 2 weeks of life, and the patient died.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.

PMID:
15545585
DOI:
10.1001/archotol.130.11.1298
[Indexed for MEDLINE]
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