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Acute respiratory distress in Pena-Shokeir syndrome.
Ear Nose Throat J. 2004 Nov; 83(11):772-3.EN

Abstract

Pena-Shokeir syndrome is a rare, autosomal-recessive disorder that usually affects newborns. Its etiology is poorly understood. Pena-Shokeir syndrome is defined by camptodactyly, multiple ankyloses, pulmonary hypoplasia, and various facial anomalies. These manifestations are usually severe, and death generally occurs at birth or shortly thereafter. We describe a case of Pena-Shokeir syndrome in a 9-year-old girl of above-normal intelligence who presented with life-threatening airway distress. To the best of our knowledge, she is the oldest living individual with Pena-Shokeir syndrome, and the only such patient whose intelligence was not impaired. We discuss the acute management and subsequent care of this patient, who not only survived, but maintained excellent grades in school.

Authors+Show Affiliations

drpete@dwx.comNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

15628635

Citation

Boesen, Peter V., and Christopher E. French. "Acute Respiratory Distress in Pena-Shokeir Syndrome." Ear, Nose, & Throat Journal, vol. 83, no. 11, 2004, pp. 772-3.
Boesen PV, French CE. Acute respiratory distress in Pena-Shokeir syndrome. Ear Nose Throat J. 2004;83(11):772-3.
Boesen, P. V., & French, C. E. (2004). Acute respiratory distress in Pena-Shokeir syndrome. Ear, Nose, & Throat Journal, 83(11), 772-3.
Boesen PV, French CE. Acute Respiratory Distress in Pena-Shokeir Syndrome. Ear Nose Throat J. 2004;83(11):772-3. PubMed PMID: 15628635.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Acute respiratory distress in Pena-Shokeir syndrome. AU - Boesen,Peter V, AU - French,Christopher E, PY - 2005/1/5/pubmed PY - 2005/4/6/medline PY - 2005/1/5/entrez SP - 772 EP - 3 JF - Ear, nose, & throat journal JO - Ear Nose Throat J VL - 83 IS - 11 N2 - Pena-Shokeir syndrome is a rare, autosomal-recessive disorder that usually affects newborns. Its etiology is poorly understood. Pena-Shokeir syndrome is defined by camptodactyly, multiple ankyloses, pulmonary hypoplasia, and various facial anomalies. These manifestations are usually severe, and death generally occurs at birth or shortly thereafter. We describe a case of Pena-Shokeir syndrome in a 9-year-old girl of above-normal intelligence who presented with life-threatening airway distress. To the best of our knowledge, she is the oldest living individual with Pena-Shokeir syndrome, and the only such patient whose intelligence was not impaired. We discuss the acute management and subsequent care of this patient, who not only survived, but maintained excellent grades in school. SN - 0145-5613 UR - https://www.unboundmedicine.com/medline/citation/15628635/Acute_respiratory_distress_in_Pena_Shokeir_syndrome_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=15628635.ui DB - PRIME DP - Unbound Medicine ER -